CRPPA (CDP-L-ribitol pyrophosphorylase A) - Rat Genome Database

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Gene: CRPPA (CDP-L-ribitol pyrophosphorylase A) Homo sapiens
Analyze
Symbol: CRPPA
Name: CDP-L-ribitol pyrophosphorylase A
RGD ID: 3160581
HGNC Page HGNC
Description: Exhibits D-ribitol-5-phosphate cytidylyltransferase activity and protein homodimerization activity. Involved in protein O-linked mannosylation. Localizes to cytosol. Implicated in autosomal recessive limb-girdle muscular dystrophy type 2U and congenital muscular dystrophy-dystroglycanopathy A7.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein; 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog; D-ribitol-5-phosphate cytidylyltransferase; FLJ42815; hCG_1745121; hISPD; isoprenoid synthase domain containing; isoprenoid synthase domain-containing protein; ISPD; LGMDR20; MDDGA7; MDDGC7; Nip; notch1-induced protein; RP11-196O16.1; testicular tissue protein Li 97
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl716,087,525 - 16,421,538 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl716,087,525 - 16,502,504 (-)EnsemblGRCh38hg38GRCh38
GRCh38716,087,525 - 16,421,538 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37716,127,150 - 16,461,163 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36716,097,786 - 16,427,472 (-)NCBINCBI36hg18NCBI36
Celera716,106,872 - 16,440,699 (-)NCBI
Cytogenetic Map7p21.2NCBI
HuRef716,012,324 - 16,347,484 (-)NCBIHuRef
CHM1_1716,126,841 - 16,460,716 (-)NCBICHM1_1
CRA_TCAGchr7v2716,180,240 - 16,514,081 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aldolase level  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal circulating creatine kinase concentration  (IAGP)
Abnormal lactate dehydrogenase level  (IAGP)
Abnormality of higher mental function  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Abnormality of the eye  (IAGP)
Absent septum pellucidum  (IAGP)
Achilles tendon contracture  (IAGP)
Adducted thumb  (IAGP)
Agenesis of corpus callosum  (IAGP)
Agyria  (IAGP)
Anophthalmia  (IAGP)
Aplasia/Hypoplasia involving the skeletal musculature  (IAGP)
Areflexia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid uvula  (IAGP)
Calf muscle hypertrophy  (IAGP)
Calf muscle pseudohypertrophy  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar cyst  (IAGP)
Chorioretinal dysplasia  (IAGP)
Congenital muscular dystrophy  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased fetal movement  (IAGP)
Deeply set eye  (IAGP)
Difficulty walking  (IAGP)
Elevated serum creatine kinase  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Encephalocele  (IAGP)
Exercise-induced myoglobinuria  (IAGP)
Facial diplegia  (IAGP)
Fatty replacement of skeletal muscle  (IAGP)
Frequent falls  (IAGP)
Frontal bossing  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Gray matter heterotopia  (IAGP)
Highly elevated creatine kinase  (IAGP)
Hydrocephalus  (IAGP)
Hypoglycosylation of alpha-dystroglycan  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Iris coloboma  (IAGP)
Kyphoscoliosis  (IAGP)
Limb-girdle muscle atrophy  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Limb-girdle muscular dystrophy  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Macrogyria  (IAGP)
Metatarsus valgus  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microphthalmia  (IAGP)
Microtia  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Motor delay  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Muscular dystrophy  (IAGP)
Myalgia  (IAGP)
Neonatal hypotonia  (IAGP)
Optic atrophy  (IAGP)
Optic nerve hypoplasia  (IAGP)
Pachygyria  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Peters anomaly  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Polymicrogyria  (IAGP)
Posteriorly rotated ears  (IAGP)
Progressive inability to walk  (IAGP)
Protruding ear  (IAGP)
Proximal amyotrophy  (IAGP)
Proximal muscle weakness in lower limbs  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Reduced forced vital capacity  (IAGP)
Reduced muscle fiber alpha dystroglycan  (IAGP)
Reduced vital capacity  (IAGP)
Remnants of the hyaloid vascular system  (IAGP)
Retinal detachment  (IAGP)
Retinal dysplasia  (IAGP)
Retinal dystrophy  (IAGP)
Retrognathia  (IAGP)
Scapular winging  (IAGP)
Seizure  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slowly progressive  (IAGP)
Specific learning disability  (IAGP)
Subcortical heterotopia  (IAGP)
Submucous cleft hard palate  (IAGP)
Toe walking  (IAGP)
Type II lissencephaly  (IAGP)
Ventriculomegaly  (IAGP)
References

Additional References at PubMed
PMID:2252242   PMID:9847074   PMID:10737800   PMID:11181995   PMID:12690205   PMID:19913121   PMID:20301468   PMID:20379614   PMID:20628086   PMID:21873635   PMID:22522420   PMID:22522421  
PMID:23151678   PMID:23217329   PMID:23288328   PMID:23390185   PMID:25444434   PMID:26087224   PMID:26220087   PMID:26404900   PMID:26687144   PMID:27194101   PMID:28810660   PMID:30021884  


Genomics

Comparative Map Data
CRPPA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl716,087,525 - 16,421,538 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl716,087,525 - 16,502,504 (-)EnsemblGRCh38hg38GRCh38
GRCh38716,087,525 - 16,421,538 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37716,127,150 - 16,461,163 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36716,097,786 - 16,427,472 (-)NCBINCBI36hg18NCBI36
Celera716,106,872 - 16,440,699 (-)NCBI
Cytogenetic Map7p21.2NCBI
HuRef716,012,324 - 16,347,484 (-)NCBIHuRef
CHM1_1716,126,841 - 16,460,716 (-)NCBICHM1_1
CRA_TCAGchr7v2716,180,240 - 16,514,081 (-)NCBI
Crppa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391236,430,334 - 36,739,502 (+)NCBIGRCm39mm39
GRCm39 Ensembl1236,431,449 - 36,739,502 (+)Ensembl
GRCm381236,380,575 - 36,689,503 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1236,381,450 - 36,689,503 (+)EnsemblGRCm38mm10GRCm38
MGSCv371237,108,106 - 37,416,031 (+)NCBIGRCm37mm9NCBIm37
MGSCv361236,891,849 - 37,015,131 (+)NCBImm8
Celera1237,825,234 - 38,127,522 (+)NCBICelera
Cytogenetic Map12A3NCBI
Crppa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2653,120,264 - 53,397,030 (+)NCBI
Rnor_6.0 Ensembl655,881,387 - 56,159,464 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0655,880,136 - 56,159,466 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0665,490,939 - 65,818,620 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4655,139,155 - 55,419,630 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1655,421,454 - 55,422,754 (+)NCBI
Celera652,259,290 - 52,534,570 (+)NCBICelera
Cytogenetic Map6q16-q21NCBI
Crppa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541019,359,868 - 19,614,344 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541019,359,495 - 19,614,283 (-)NCBIChiLan1.0ChiLan1.0
CRPPA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1716,076,235 - 16,405,268 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl716,077,091 - 16,405,220 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0716,747,569 - 17,078,389 (-)NCBIMhudiblu_PPA_v0panPan3
CRPPA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11430,697,060 - 30,989,423 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1430,648,128 - 30,989,604 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1430,218,221 - 30,510,640 (-)NCBI
ROS_Cfam_1.01430,609,518 - 30,909,358 (-)NCBI
UMICH_Zoey_3.11430,712,952 - 31,011,922 (-)NCBI
UNSW_CanFamBas_1.01430,431,982 - 30,724,382 (-)NCBI
UU_Cfam_GSD_1.01430,744,230 - 31,036,870 (-)NCBI
Crppa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511874,982,852 - 75,270,444 (-)NCBI
SpeTri2.0NW_0049365462,658,195 - 2,945,542 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CRPPA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl985,415,550 - 85,710,752 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1985,419,401 - 85,711,146 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2994,460,506 - 94,549,186 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CRPPA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12141,691,771 - 42,008,484 (+)NCBI
ChlSab1.1 Ensembl2141,691,912 - 42,010,301 (+)Ensembl
Crppa
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473913,813,779 - 14,114,296 (+)NCBI

Position Markers
RH79611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,168,073 - 16,168,321UniSTSGRCh37
Build 36716,134,598 - 16,134,846RGDNCBI36
Celera716,147,819 - 16,148,067RGD
Cytogenetic Map7p21.2UniSTS
HuRef716,053,281 - 16,053,529UniSTS
CRA_TCAGchr7v2716,221,184 - 16,221,432UniSTS
GeneMap99-GB4 RH Map779.04UniSTS
RH93972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,168,209 - 16,168,333UniSTSGRCh37
Build 36716,134,734 - 16,134,858RGDNCBI36
Celera716,147,955 - 16,148,079RGD
Cytogenetic Map7p21.2UniSTS
HuRef716,053,417 - 16,053,541UniSTS
CRA_TCAGchr7v2716,221,320 - 16,221,444UniSTS
GeneMap99-GB4 RH Map7104.85UniSTS
G42357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,168,075 - 16,168,323UniSTSGRCh37
Build 36716,134,600 - 16,134,848RGDNCBI36
Celera716,147,821 - 16,148,069RGD
Cytogenetic Map7p21.2UniSTS
HuRef716,053,283 - 16,053,531UniSTS
CRA_TCAGchr7v2716,221,186 - 16,221,434UniSTS
SHGC-82972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,158,351 - 16,158,681UniSTSGRCh37
Build 36716,124,876 - 16,125,206RGDNCBI36
Celera716,138,099 - 16,138,429RGD
Cytogenetic Map7p21.2UniSTS
HuRef716,043,555 - 16,043,885UniSTS
CRA_TCAGchr7v2716,211,467 - 16,211,797UniSTS
TNG Radiation Hybrid Map76701.0UniSTS
RH119193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,331,842 - 16,332,114UniSTSGRCh37
Build 36716,298,367 - 16,298,639RGDNCBI36
Celera716,311,601 - 16,311,873RGD
Cytogenetic Map7p21.2UniSTS
HuRef716,218,376 - 16,218,648UniSTS
CRA_TCAGchr7v2716,384,953 - 16,385,225UniSTS
TNG Radiation Hybrid Map76532.0UniSTS
SHGC-105041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,404,170 - 16,404,468UniSTSGRCh37
Build 36716,370,695 - 16,370,993RGDNCBI36
Celera716,383,941 - 16,384,239RGD
Cytogenetic Map7p21.2UniSTS
HuRef716,290,705 - 16,291,003UniSTS
CRA_TCAGchr7v2716,457,303 - 16,457,601UniSTS
TNG Radiation Hybrid Map76581.0UniSTS
G65701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,168,163 - 16,168,459UniSTSGRCh37
Build 36716,134,688 - 16,134,984RGDNCBI36
Celera716,147,909 - 16,148,205RGD
Cytogenetic Map7p21.2UniSTS
HuRef716,053,371 - 16,053,667UniSTS
CRA_TCAGchr7v2716,221,274 - 16,221,570UniSTS
GDB:1318026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,324,820 - 16,324,990UniSTSGRCh37
Build 36716,291,345 - 16,291,515RGDNCBI36
Celera716,304,572 - 16,304,742RGD
Cytogenetic Map7p21.2UniSTS
HuRef716,211,345 - 16,211,515UniSTS
CRA_TCAGchr7v2716,377,931 - 16,378,101UniSTS
GDB:1317788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,231,120 - 16,231,228UniSTSGRCh37
Build 36716,197,645 - 16,197,753RGDNCBI36
Celera716,210,864 - 16,210,972RGD
Cytogenetic Map7p21.2UniSTS
HuRef716,117,648 - 16,117,756UniSTS
CRA_TCAGchr7v2716,284,225 - 16,284,333UniSTS
GDB:1317458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,283,999 - 16,284,072UniSTSGRCh37
Build 36716,250,524 - 16,250,597RGDNCBI36
Celera716,263,750 - 16,263,823RGD
Cytogenetic Map7p21.2UniSTS
HuRef716,170,525 - 16,170,598UniSTS
CRA_TCAGchr7v2716,337,110 - 16,337,183UniSTS
SHGC-58155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,312,837 - 16,312,975UniSTSGRCh37
Build 36716,279,362 - 16,279,500RGDNCBI36
Celera716,292,589 - 16,292,727RGD
Cytogenetic Map7p21.2UniSTS
HuRef716,199,361 - 16,199,499UniSTS
CRA_TCAGchr7v2716,365,948 - 16,366,086UniSTS
TNG Radiation Hybrid Map76509.0UniSTS
RH48528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,315,401 - 16,315,549UniSTSGRCh37
Build 36716,281,926 - 16,282,074RGDNCBI36
Celera716,295,153 - 16,295,301RGD
Cytogenetic Map7p21.2UniSTS
HuRef716,201,925 - 16,202,073UniSTS
CRA_TCAGchr7v2716,368,512 - 16,368,660UniSTS
GeneMap99-GB4 RH Map7104.85UniSTS
GDB:335751  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3q22.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map9q22.32UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
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Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:320
Count of miRNA genes:173
Interacting mature miRNAs:178
Transcripts:ENST00000399310, ENST00000407010, ENST00000479493
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 3 8 1 1 3 15 3
Low 1947 1839 1423 464 441 327 3390 1561 3445 351 1335 1322 150 1 934 2221 6 2
Below cutoff 486 1094 302 160 1381 138 964 633 289 63 109 287 24 270 567

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001101417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001101426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001368197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE092109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT932748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DY654823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000399310   ⟹   ENSP00000382249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl716,091,192 - 16,421,322 (-)Ensembl
RefSeq Acc Id: ENST00000407010   ⟹   ENSP00000385478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl716,087,525 - 16,421,538 (-)Ensembl
RefSeq Acc Id: ENST00000479493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl716,276,577 - 16,301,466 (-)Ensembl
RefSeq Acc Id: ENST00000674759   ⟹   ENSP00000502749
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl716,216,111 - 16,502,504 (-)Ensembl
RefSeq Acc Id: ENST00000675257   ⟹   ENSP00000501664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl716,091,496 - 16,502,494 (-)Ensembl
RefSeq Acc Id: ENST00000676325   ⟹   ENSP00000502074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl716,091,220 - 16,420,697 (-)Ensembl
RefSeq Acc Id: NM_001101417   ⟹   NP_001094887
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38716,087,525 - 16,421,538 (-)NCBI
GRCh37716,127,152 - 16,460,947 (-)RGD
Celera716,106,872 - 16,440,699 (-)RGD
HuRef716,012,324 - 16,347,484 (-)RGD
CHM1_1716,126,841 - 16,460,716 (-)NCBI
CRA_TCAGchr7v2716,180,240 - 16,514,081 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001101426   ⟹   NP_001094896
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38716,087,525 - 16,421,538 (-)NCBI
GRCh37716,127,152 - 16,460,947 (-)RGD
Build 36716,097,786 - 16,427,472 (-)NCBI Archive
Celera716,106,872 - 16,440,699 (-)RGD
HuRef716,012,324 - 16,347,484 (-)RGD
CHM1_1716,126,841 - 16,460,716 (-)NCBI
CRA_TCAGchr7v2716,180,240 - 16,514,081 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001368197   ⟹   NP_001355126
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38716,087,525 - 16,421,538 (-)NCBI
RefSeq Acc Id: NR_160656
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38716,087,525 - 16,421,538 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_001094887   ⟸   NM_001101417
- Peptide Label: isoform b
- UniProtKB: A4D126 (UniProtKB/Swiss-Prot),   A0A140VJM1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001094896   ⟸   NM_001101426
- Peptide Label: isoform a
- UniProtKB: A4D126 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001355126   ⟸   NM_001368197
- Peptide Label: isoform c
RefSeq Acc Id: ENSP00000382249   ⟸   ENST00000399310
RefSeq Acc Id: ENSP00000385478   ⟸   ENST00000407010
RefSeq Acc Id: ENSP00000502749   ⟸   ENST00000674759
RefSeq Acc Id: ENSP00000501664   ⟸   ENST00000675257
RefSeq Acc Id: ENSP00000502074   ⟸   ENST00000676325
Protein Domains
ISPD_C

Promoters
RGD ID:7209981
Promoter ID:EPDNEW_H10735
Type:initiation region
Name:ISPD_1
Description:isoprenoid synthase domain containing
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38716,421,225 - 16,421,285EPDNEW
RGD ID:6805830
Promoter ID:HG_KWN:56396
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:ENST00000399310,   NM_001101417,   NM_001101426
Position:
Human AssemblyChrPosition (strand)Source
Build 36716,427,001 - 16,427,567 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001101426.4(CRPPA):c.779A>G (p.Asp260Gly) single nucleotide variant not provided [RCV000520452] Chr7:16308533 [GRCh38]
Chr7:16348158 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1120-1G>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000024269]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000650387]|not provided [RCV000344890] Chr7:16216198 [GRCh38]
Chr7:16255823 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000024270] Chr7:16366648..16369693 [GRCh38]
Chr7:16406273..16409318 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.789+2T>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000024271] Chr7:16308521 [GRCh38]
Chr7:16348146 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000024272]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000688977]|Muscular dystrophy-dystroglycanopathy [RCV000503716]|not provided [RCV000300802] Chr7:16406316..16406318 [GRCh38]
Chr7:16445941..16445943 [GRCh37]
Chr7:7p21.2
pathogenic|likely pathogenic|uncertain significance
NM_001101426.3(CRPPA):c.535-?_933+?del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000032810] Chr7:16278129..16376241 [GRCh38]
Chr7:16317753..16415867 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000791996]|not provided [RCV000729298] Chr7:16216125 [GRCh38]
Chr7:16255750 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000544359] Chr7:16258936 [GRCh38]
Chr7:16298561 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000528327] Chr7:16308619 [GRCh38]
Chr7:16348244 [GRCh37]
Chr7:7p21.2
uncertain significance
NC_000007.14:g.(?_16406061)_(16406337_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000529419] Chr7:16406061..16406337 [GRCh38]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000024273] Chr7:16376129 [GRCh38]
Chr7:16415754 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000024274] Chr7:16301424 [GRCh38]
Chr7:16341049 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000024275] Chr7:16406231 [GRCh38]
Chr7:16445856 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000024276]|not provided [RCV000591620] Chr7:16301454 [GRCh38]
Chr7:16341079 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.3(ISPD):c.684+11062G>T single nucleotide variant Lung cancer [RCV000105925] Chr7:16365030 [GRCh38]
Chr7:16404655 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000032809] Chr7:16376138 [GRCh38]
Chr7:16415763 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000032811] Chr7:16406129 [GRCh38]
Chr7:16445754 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000032812]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001297371]|not provided [RCV000347230] Chr7:16308599 [GRCh38]
Chr7:16348224 [GRCh37]
Chr7:7p21.2
pathogenic|uncertain significance
NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000032813] Chr7:16421067 [GRCh38]
Chr7:16460692 [GRCh37]
Chr7:7p21.2
pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p21.3-15.3(chr7:8274775-21988311)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|See cases [RCV000052280] Chr7:8274775..21988311 [GRCh38]
Chr7:8314405..22027929 [GRCh37]
Chr7:8280930..21994454 [NCBI36]
Chr7:7p21.3-15.3
pathogenic
GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1 copy number loss See cases [RCV000052281] Chr7:9975653..19356878 [GRCh38]
Chr7:10015280..19396501 [GRCh37]
Chr7:9981805..19363026 [NCBI36]
Chr7:7p21.3-21.1
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:14959516-19467349)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052288]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052288]|See cases [RCV000052288] Chr7:14959516..19467349 [GRCh38]
Chr7:14999141..19506972 [GRCh37]
Chr7:14965666..19473497 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1 copy number loss See cases [RCV000052289] Chr7:15133711..19642829 [GRCh38]
Chr7:15173336..19682452 [GRCh37]
Chr7:15139861..19648977 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3 copy number gain See cases [RCV000053531] Chr7:16234212..26167278 [GRCh38]
Chr7:16273837..26206898 [GRCh37]
Chr7:16240362..26173423 [NCBI36]
Chr7:7p21.2-15.2
pathogenic
NM_001101426.4(CRPPA):c.979C>G (p.Leu327Val) single nucleotide variant not provided [RCV000117291] Chr7:16258967 [GRCh38]
Chr7:16298592 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000403197]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001084031]|not provided [RCV000839707]|not specified [RCV000117286] Chr7:16216097 [GRCh38]
Chr7:16255722 [GRCh37]
Chr7:7p21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162751]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000526719]|not specified [RCV000117287] Chr7:16421291 [GRCh38]
Chr7:16460916 [GRCh37]
Chr7:7p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000380541]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000524571]|not provided [RCV000992183]|not specified [RCV000117288] Chr7:16406188 [GRCh38]
Chr7:16445813 [GRCh37]
Chr7:7p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000347035]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000600664]|not specified [RCV000117289] Chr7:16421268 [GRCh38]
Chr7:16460893 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000363271]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000538481]|not specified [RCV000117290] Chr7:16308586 [GRCh38]
Chr7:16348211 [GRCh37]
Chr7:7p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001101426.4(CRPPA):c.161G>C (p.Gly54Ala) single nucleotide variant Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 [RCV000144515] Chr7:16421162 [GRCh38]
Chr7:16460787 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.1105_1107GTT[3] (p.Val372del) microsatellite Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 [RCV000714703]|Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 [RCV000144516]|not provided [RCV000596292] Chr7:16258393..16258395 [GRCh38]
Chr7:16298018..16298020 [GRCh37]
Chr7:7p21.2
pathogenic|likely pathogenic
NM_001101426.4(CRPPA):c.836-19dup duplication Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000272252]|not specified [RCV000179368] Chr7:16278234..16278235 [GRCh38]
Chr7:16317859..16317860 [GRCh37]
Chr7:7p21.2
benign|uncertain significance
NM_001101426.3(ISPD):c.685-11_685-10insGTT insertion not specified [RCV000178146] Chr7:16308637..16308638 [GRCh38]
Chr7:16348262..16348263 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.7G>T (p.Ala3Ser) single nucleotide variant not provided [RCV000173204] Chr7:16421316 [GRCh38]
Chr7:16460941 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000292121]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000531834]|not specified [RCV000173205] Chr7:16421244 [GRCh38]
Chr7:16460869 [GRCh37]
Chr7:7p21.2
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1 copy number loss See cases [RCV000133737] Chr7:14904894..16925094 [GRCh38]
Chr7:14944519..16964718 [GRCh37]
Chr7:14911044..16931243 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1 copy number loss See cases [RCV000136932] Chr7:13966197..18321354 [GRCh38]
Chr7:14005822..18360977 [GRCh37]
Chr7:13972347..18327502 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1 copy number loss See cases [RCV000137236] Chr7:16121516..20607899 [GRCh38]
Chr7:16161141..20647522 [GRCh37]
Chr7:16127666..20614047 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1 copy number loss See cases [RCV000137924] Chr7:15533812..24851432 [GRCh38]
Chr7:15573437..24891051 [GRCh37]
Chr7:15539962..24857576 [NCBI36]
Chr7:7p21.2-15.3
pathogenic
GRCh38/hg38 7p21.2(chr7:16325260-16401680)x1 copy number loss See cases [RCV000140265] Chr7:16325260..16401680 [GRCh38]
Chr7:16364885..16441305 [GRCh37]
Chr7:16331410..16407830 [NCBI36]
Chr7:7p21.2
benign
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1 copy number loss See cases [RCV000142652] Chr7:11122492..16479303 [GRCh38]
Chr7:11162119..16518928 [GRCh37]
Chr7:11128644..16485453 [NCBI36]
Chr7:7p21.3-21.2
pathogenic
GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1 copy number loss See cases [RCV000142708] Chr7:10610069..25760560 [GRCh38]
Chr7:10649696..25800180 [GRCh37]
Chr7:10616221..25766705 [NCBI36]
Chr7:7p21.3-15.2
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
NM_015464.2(SOSTDC1):c.260G>A (p.Gly87Asp) single nucleotide variant Malignant melanoma [RCV000067803] Chr7:16462909 [GRCh38]
Chr7:16502534 [GRCh37]
Chr7:16469059 [NCBI36]
Chr7:7p21.2
not provided
NC_000007.14:g.16026411C>A single nucleotide variant Lung cancer [RCV000105924] Chr7:16026411 [GRCh38]
Chr7:16066036 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_015464.2(SOSTDC1):c.-324G>C single nucleotide variant Lung cancer [RCV000105926] Chr7:16465992 [GRCh38]
Chr7:16505617 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164711]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000546920]|not specified [RCV000179811] Chr7:16258999 [GRCh38]
Chr7:16298624 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162651]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000544710]|not provided [RCV001092556]|not specified [RCV000253188] Chr7:16258450 [GRCh38]
Chr7:16298075 [GRCh37]
Chr7:7p21.2
benign|likely benign|uncertain significance
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000303108]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000534203]|not provided [RCV001092557]|not specified [RCV000248399] Chr7:16258455 [GRCh38]
Chr7:16298080 [GRCh37]
Chr7:7p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.1151C>T (p.Pro384Leu) single nucleotide variant not provided [RCV000180557] Chr7:16216166 [GRCh38]
Chr7:16255791 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*520C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000263080] Chr7:16091175 [GRCh38]
Chr7:16130800 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1234C>G (p.Leu412Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001237052]|not provided [RCV000727468]|not specified [RCV000194436] Chr7:16216083 [GRCh38]
Chr7:16255708 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000285781]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000650393]|not specified [RCV000316509] Chr7:16406235 [GRCh38]
Chr7:16445860 [GRCh37]
Chr7:7p21.2
benign|likely benign|uncertain significance
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000374609]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000539554]|not provided [RCV000726360]|not specified [RCV000346090] Chr7:16376225 [GRCh38]
Chr7:16415850 [GRCh37]
Chr7:7p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.534+13T>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000280181]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000611004]|not specified [RCV000220596] Chr7:16406048 [GRCh38]
Chr7:16445673 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.685-25GTT[6] microsatellite Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000333361]|not provided [RCV000992184]|not specified [RCV000216003] Chr7:16308637..16308638 [GRCh38]
Chr7:16348262..16348263 [GRCh37]
Chr7:7p21.2
benign|likely benign
NM_001101426.4(CRPPA):c.258-1G>C single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000548174]|not provided [RCV000330073] Chr7:16406338 [GRCh38]
Chr7:16445963 [GRCh37]
Chr7:7p21.2
pathogenic|likely pathogenic
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter) single nucleotide variant ISPD-Related Disorder [RCV000844945]|not provided [RCV000342780] Chr7:16376133 [GRCh38]
Chr7:16415758 [GRCh37]
Chr7:7p21.2
pathogenic|not provided
NM_001101426.4(CRPPA):c.1251+50A>G single nucleotide variant not specified [RCV000243778] Chr7:16216016 [GRCh38]
Chr7:16255641 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.*34C>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000297186]|not specified [RCV000251432] Chr7:16091661 [GRCh38]
Chr7:16131286 [GRCh37]
Chr7:7p21.2
benign|likely benign
NM_001101426.4(CRPPA):c.1026+45_1026+46del deletion not provided [RCV000829709]|not specified [RCV000243233] Chr7:16258874..16258875 [GRCh38]
Chr7:16298499..16298500 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000554284]|not specified [RCV000250608] Chr7:16421256 [GRCh38]
Chr7:16460881 [GRCh37]
Chr7:7p21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001101426.4(CRPPA):c.*2368_*2373del deletion Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000298367] Chr7:16089322..16089327 [GRCh38]
Chr7:16128947..16128952 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.*2106C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000267318] Chr7:16089589 [GRCh38]
Chr7:16129214 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.*1146G>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000344564] Chr7:16090549 [GRCh38]
Chr7:16130174 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2493_*2494TA[2] microsatellite Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000344945] Chr7:16089197..16089198 [GRCh38]
Chr7:16128822..16128823 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.*2336G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000368418] Chr7:16089359 [GRCh38]
Chr7:16128984 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2352G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000394395] Chr7:16089343 [GRCh38]
Chr7:16128968 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2310A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000333641] Chr7:16089385 [GRCh38]
Chr7:16129010 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*414T>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000333534] Chr7:16091281 [GRCh38]
Chr7:16130906 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3091C>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000268563] Chr7:16088604 [GRCh38]
Chr7:16128229 [GRCh37]
Chr7:7p21.2
benign|uncertain significance
NM_001101426.4(CRPPA):c.*2181A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000370461] Chr7:16089514 [GRCh38]
Chr7:16129139 [GRCh37]
Chr7:7p21.2
benign|likely benign
NM_001101426.4(CRPPA):c.*2251G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000376539] Chr7:16089444 [GRCh38]
Chr7:16129069 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2404G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000304125] Chr7:16089291 [GRCh38]
Chr7:16128916 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1855G>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000324856] Chr7:16089840 [GRCh38]
Chr7:16129465 [GRCh37]
Chr7:7p21.2
likely benign|uncertain significance
NM_001101426.4(CRPPA):c.*3161T>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000347948] Chr7:16088534 [GRCh38]
Chr7:16128159 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2211G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000348445] Chr7:16089484 [GRCh38]
Chr7:16129109 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1849G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000372521] Chr7:16089846 [GRCh38]
Chr7:16129471 [GRCh37]
Chr7:7p21.2
benign|likely benign
NM_001101426.4(CRPPA):c.*3275_*3282del deletion Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000373988] Chr7:16088413..16088420 [GRCh38]
Chr7:16128038..16128045 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.*3475C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000379843] Chr7:16088220 [GRCh38]
Chr7:16127845 [GRCh37]
Chr7:7p21.2
benign|uncertain significance
NM_001101426.4(CRPPA):c.*2235A>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000379920] Chr7:16089460 [GRCh38]
Chr7:16129085 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3191C>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000403144] Chr7:16088504 [GRCh38]
Chr7:16128129 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2276T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000271549] Chr7:16089419 [GRCh38]
Chr7:16129044 [GRCh37]
Chr7:7p21.2
benign|likely benign
NM_001101426.4(CRPPA):c.*988G>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000303904] Chr7:16090707 [GRCh38]
Chr7:16130332 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000319984]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001053234] Chr7:16376150 [GRCh38]
Chr7:16415775 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1677A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000375968] Chr7:16090018 [GRCh38]
Chr7:16129643 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.*3139A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000404980] Chr7:16088556 [GRCh38]
Chr7:16128181 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2133A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000273075] Chr7:16089562 [GRCh38]
Chr7:16129187 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2149A>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000307607] Chr7:16089546 [GRCh38]
Chr7:16129171 [GRCh37]
Chr7:7p21.2
benign|likely benign
NM_001101426.4(CRPPA):c.*4023C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000308021] Chr7:16087672 [GRCh38]
Chr7:16127297 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2121_*2122AT[3] microsatellite Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000321245] Chr7:16089567..16089568 [GRCh38]
Chr7:16129192..16129193 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1099C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000309893] Chr7:16090596 [GRCh38]
Chr7:16130221 [GRCh37]
Chr7:7p21.2
benign|likely benign
NM_001101426.4(CRPPA):c.*3025C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000354647] Chr7:16088670 [GRCh38]
Chr7:16128295 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2464G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000291176] Chr7:16089231 [GRCh38]
Chr7:16128856 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1251+4G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000342731]|not provided [RCV000416168] Chr7:16216062 [GRCh38]
Chr7:16255687 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*4023C>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000362747] Chr7:16087672 [GRCh38]
Chr7:16127297 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.*791T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000259452] Chr7:16090904 [GRCh38]
Chr7:16130529 [GRCh37]
Chr7:7p21.2
benign|likely benign
NM_001101426.4(CRPPA):c.*2759G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000275452] Chr7:16088936 [GRCh38]
Chr7:16128561 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2566A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000332893] Chr7:16089129 [GRCh38]
Chr7:16128754 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.*686G>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000355411] Chr7:16091009 [GRCh38]
Chr7:16130634 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2368T>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000355608] Chr7:16089327 [GRCh38]
Chr7:16128952 [GRCh37]
Chr7:7p21.2
benign|likely benign
NM_001101426.4(CRPPA):c.*321A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000381165] Chr7:16091374 [GRCh38]
Chr7:16130999 [GRCh37]
Chr7:7p21.2
benign|likely benign
NM_001101426.4(CRPPA):c.*2167G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000403935] Chr7:16089528 [GRCh38]
Chr7:16129153 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.*2197G>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000404602] Chr7:16089498 [GRCh38]
Chr7:16129123 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.*1470T>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000293172] Chr7:16090225 [GRCh38]
Chr7:16129850 [GRCh37]
Chr7:7p21.2
likely benign|uncertain significance
NM_001101426.4(CRPPA):c.*2351C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000311300] Chr7:16089344 [GRCh38]
Chr7:16128969 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.*3792A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000357924] Chr7:16087903 [GRCh38]
Chr7:16127528 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2488G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000383139] Chr7:16089207 [GRCh38]
Chr7:16128832 [GRCh37]
Chr7:7p21.2
likely benign|uncertain significance
NM_001101426.4(CRPPA):c.*4092A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000406561] Chr7:16087603 [GRCh38]
Chr7:16127228 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1043C>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000406091] Chr7:16090652 [GRCh38]
Chr7:16130277 [GRCh37]
Chr7:7p21.2
benign|likely benign
NM_001101426.4(CRPPA):c.836-9del deletion Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000308621]|not provided [RCV000992185] Chr7:16278235 [GRCh38]
Chr7:16317860 [GRCh37]
Chr7:7p21.2
benign|likely benign
NM_001101426.4(CRPPA):c.*3254C>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000294677] Chr7:16088441 [GRCh38]
Chr7:16128066 [GRCh37]
Chr7:7p21.2
likely benign|uncertain significance
NM_001101426.4(CRPPA):c.*2119C>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000359606] Chr7:16089576 [GRCh38]
Chr7:16129201 [GRCh37]
Chr7:7p21.2
likely benign|uncertain significance
NM_001101426.4(CRPPA):c.*2926A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000262687] Chr7:16088769 [GRCh38]
Chr7:16128394 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3123C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000360875] Chr7:16088572 [GRCh38]
Chr7:16128197 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*465T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000386863] Chr7:16091230 [GRCh38]
Chr7:16130855 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*303G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000295114] Chr7:16091392 [GRCh38]
Chr7:16131017 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1848C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000279803] Chr7:16089847 [GRCh38]
Chr7:16129472 [GRCh37]
Chr7:7p21.2
benign|likely benign
NM_001101426.4(CRPPA):c.*1080G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000339125] Chr7:16090615 [GRCh38]
Chr7:16130240 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2304A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000362674] Chr7:16089391 [GRCh38]
Chr7:16129016 [GRCh37]
Chr7:7p21.2
likely benign|uncertain significance
NM_001101426.4(CRPPA):c.684+12G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000387775] Chr7:16376080 [GRCh38]
Chr7:16415705 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3087G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000298003] Chr7:16088608 [GRCh38]
Chr7:16128233 [GRCh37]
Chr7:7p21.2
likely benign|uncertain significance
NM_001101426.4(CRPPA):c.*2446_*2447AT[2] microsatellite Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000339211] Chr7:16089244..16089245 [GRCh38]
Chr7:16128869..16128870 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2522G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000389680] Chr7:16089173 [GRCh38]
Chr7:16128798 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*239G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000350002] Chr7:16091456 [GRCh38]
Chr7:16131081 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2220T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000281756] Chr7:16089475 [GRCh38]
Chr7:16129100 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*112T>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000282103] Chr7:16091583 [GRCh38]
Chr7:16131208 [GRCh37]
Chr7:7p21.2
benign|uncertain significance
NM_001101426.4(CRPPA):c.360C>G (p.Val120=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000340702]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000876693] Chr7:16406235 [GRCh38]
Chr7:16445860 [GRCh37]
Chr7:7p21.2
likely benign|uncertain significance
NM_001101426.4(CRPPA):c.*2148T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000365371] Chr7:16089547 [GRCh38]
Chr7:16129172 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.*60G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000391144] Chr7:16091635 [GRCh38]
Chr7:16131260 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.*2432G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000392455] Chr7:16089263 [GRCh38]
Chr7:16128888 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2380G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000342617] Chr7:16089315 [GRCh38]
Chr7:16128940 [GRCh37]
Chr7:7p21.2
benign|uncertain significance
NM_001101426.4(CRPPA):c.*2225A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000393099] Chr7:16089470 [GRCh38]
Chr7:16129095 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000393577]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000536932]|not specified [RCV000437601] Chr7:16406249 [GRCh38]
Chr7:16445874 [GRCh37]
Chr7:7p21.2
benign|likely benign|uncertain significance
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) duplication Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000650388]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001333761]|not provided [RCV000274875] Chr7:16421269..16421270 [GRCh38]
Chr7:16460894..16460895 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.972C>A (p.Gly324=) single nucleotide variant not provided [RCV000303129] Chr7:16258974 [GRCh38]
Chr7:16298599 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.934-5A>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001089086]|not provided [RCV000336082] Chr7:16259017 [GRCh38]
Chr7:16298642 [GRCh37]
Chr7:7p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001257052]|not provided [RCV000337572] Chr7:16278222 [GRCh38]
Chr7:16317847 [GRCh37]
Chr7:7p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.191C>T (p.Thr64Ile) single nucleotide variant not provided [RCV000371242] Chr7:16421132 [GRCh38]
Chr7:16460757 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.307G>A (p.Glu103Lys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001202951]|not provided [RCV000372370] Chr7:16406288 [GRCh38]
Chr7:16445913 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3287G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000259384] Chr7:16088408 [GRCh38]
Chr7:16128033 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2321_*2324dup duplication Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000276163] Chr7:16089370..16089371 [GRCh38]
Chr7:16128995..16128996 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.136G>C (p.Ala46Pro) single nucleotide variant not provided [RCV000725772] Chr7:16421187 [GRCh38]
Chr7:16460812 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3281_*3282dup duplication Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000281827] Chr7:16088412..16088413 [GRCh38]
Chr7:16128037..16128038 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2226_*2229dup duplication Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000278427] Chr7:16089465..16089466 [GRCh38]
Chr7:16129090..16129091 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.1120-4G>A single nucleotide variant not provided [RCV000305226] Chr7:16216201 [GRCh38]
Chr7:16255826 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000690754]|not provided [RCV000307538] Chr7:16421123 [GRCh38]
Chr7:16460748 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1161A>T (p.Lys387Asn) single nucleotide variant not provided [RCV000341863] Chr7:16216156 [GRCh38]
Chr7:16255781 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.248C>T (p.Ala83Val) single nucleotide variant not provided [RCV000342140] Chr7:16421075 [GRCh38]
Chr7:16460700 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*4010G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000271470] Chr7:16087685 [GRCh38]
Chr7:16127310 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV000304549] Chr7:16421322 [GRCh38]
Chr7:16460947 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001088686]|not provided [RCV000726129]|not specified [RCV000275602] Chr7:16421200 [GRCh38]
Chr7:16460825 [GRCh37]
Chr7:7p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.24C>T (p.Ser8=) single nucleotide variant not provided [RCV000277589] Chr7:16421299 [GRCh38]
Chr7:16460924 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.239C>A (p.Thr80Asn) single nucleotide variant not provided [RCV000344575] Chr7:16421084 [GRCh38]
Chr7:16460709 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159796]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000694888]|not provided [RCV000725038] Chr7:16406063 [GRCh38]
Chr7:16445688 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001330286]|not provided [RCV000317087] Chr7:16216131 [GRCh38]
Chr7:16255756 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.402A>G (p.Leu134=) single nucleotide variant not provided [RCV000279378] Chr7:16406193 [GRCh38]
Chr7:16445818 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001088571]|not provided [RCV000280377] Chr7:16216071 [GRCh38]
Chr7:16255696 [GRCh37]
Chr7:7p21.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.822A>T (p.Glu274Asp) single nucleotide variant not provided [RCV000313819] Chr7:16301434 [GRCh38]
Chr7:16341059 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164713]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000543444]|not provided [RCV000726361]|not specified [RCV000384298] Chr7:16301448 [GRCh38]
Chr7:16341073 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2219_*2222GTAC[3] microsatellite Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000335784] Chr7:16089468..16089469 [GRCh38]
Chr7:16129093..16129094 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.*73_*74TG[5] microsatellite Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000337055] Chr7:16091614..16091615 [GRCh38]
Chr7:16131239..16131240 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.28A>T (p.Arg10Trp) single nucleotide variant not provided [RCV000351003] Chr7:16421295 [GRCh38]
Chr7:16460920 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.628G>A (p.Ala210Thr) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000274708] Chr7:16376148 [GRCh38]
Chr7:16415773 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000705940]|not provided [RCV000284083] Chr7:16278181 [GRCh38]
Chr7:16317806 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.17C>T (p.Pro6Leu) single nucleotide variant not provided [RCV000282949] Chr7:16421306 [GRCh38]
Chr7:16460931 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.209C>G (p.Pro70Arg) single nucleotide variant not provided [RCV000285930] Chr7:16421114 [GRCh38]
Chr7:16460739 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001059488]|not provided [RCV000319766] Chr7:16258955 [GRCh38]
Chr7:16298580 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.255G>A (p.Glu85=) single nucleotide variant not provided [RCV000391254] Chr7:16421068 [GRCh38]
Chr7:16460693 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.52C>T (p.Leu18=) single nucleotide variant not provided [RCV000725773]|not specified [RCV000392475] Chr7:16421271 [GRCh38]
Chr7:16460896 [GRCh37]
Chr7:7p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.1301C>T (p.Ala434Val) single nucleotide variant not provided [RCV000394855] Chr7:16091750 [GRCh38]
Chr7:16131375 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*421T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000276090] Chr7:16091274 [GRCh38]
Chr7:16130899 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1145dup duplication Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000392061] Chr7:16090549..16090550 [GRCh38]
Chr7:16130174..16130175 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001161197]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000695742]|not provided [RCV000325140] Chr7:16406275 [GRCh38]
Chr7:16445900 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3578del deletion Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000265546] Chr7:16088117 [GRCh38]
Chr7:16127742 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.948A>G (p.Thr316=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164710]|not provided [RCV000260764] Chr7:16258998 [GRCh38]
Chr7:16298623 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.44G>T (p.Gly15Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001215800]|not provided [RCV000289947] Chr7:16421279 [GRCh38]
Chr7:16460904 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.193C>T (p.Pro65Ser) single nucleotide variant not provided [RCV000326516] Chr7:16421130 [GRCh38]
Chr7:16460755 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1058A>G (p.Lys353Arg) single nucleotide variant not provided [RCV000325356] Chr7:16258451 [GRCh38]
Chr7:16298076 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.139G>A (p.Val47Met) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001313784]|not provided [RCV000294210] Chr7:16421184 [GRCh38]
Chr7:16460809 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164709]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001081030]|not provided [RCV000724992]|not specified [RCV000328111] Chr7:16258947 [GRCh38]
Chr7:16298572 [GRCh37]
Chr7:7p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.789+9G>A single nucleotide variant not provided [RCV000328700] Chr7:16308514 [GRCh38]
Chr7:16348139 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.531C>T (p.His177=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001087171]|not provided [RCV000328814] Chr7:16406064 [GRCh38]
Chr7:16445689 [GRCh37]
Chr7:7p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.1307T>C (p.Leu436Ser) single nucleotide variant not provided [RCV000330807] Chr7:16091744 [GRCh38]
Chr7:16131369 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.828T>C (p.Ile276=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001082644]|not provided [RCV000332676] Chr7:16301428 [GRCh38]
Chr7:16341053 [GRCh37]
Chr7:7p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.77A>C (p.His26Pro) single nucleotide variant not provided [RCV000334303] Chr7:16421246 [GRCh38]
Chr7:16460871 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000794219]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001330287]|not provided [RCV000369595] Chr7:16278148 [GRCh38]
Chr7:16317773 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.839G>T (p.Arg280Ile) single nucleotide variant not provided [RCV000266770] Chr7:16278223 [GRCh38]
Chr7:16317848 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.382A>C (p.Arg128=) single nucleotide variant not provided [RCV000371472] Chr7:16406213 [GRCh38]
Chr7:16445838 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.261A>G (p.Val87=) single nucleotide variant not provided [RCV000726438]|not specified [RCV000369542] Chr7:16406334 [GRCh38]
Chr7:16445959 [GRCh37]
Chr7:7p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.161G>T (p.Gly54Val) single nucleotide variant not provided [RCV000370814] Chr7:16421162 [GRCh38]
Chr7:16460787 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.640C>T (p.Pro214Ser) single nucleotide variant not provided [RCV000372054] Chr7:16376136 [GRCh38]
Chr7:16415761 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.702G>C (p.Leu234Phe) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000268872] Chr7:16308610 [GRCh38]
Chr7:16348235 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000553533] Chr7:16308536 [GRCh38]
Chr7:16348161 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.945C>T (p.Val315=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000531124] Chr7:16259001 [GRCh38]
Chr7:16298626 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000705450]|not provided [RCV000594363] Chr7:16421102 [GRCh38]
Chr7:16460727 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000699662]|not provided [RCV000596664] Chr7:16376140 [GRCh38]
Chr7:16415765 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*509A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000329915] Chr7:16091186 [GRCh38]
Chr7:16130811 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3133G>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000303777] Chr7:16088562 [GRCh38]
Chr7:16128187 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1026+1G>T single nucleotide variant not provided [RCV000520716] Chr7:16258919 [GRCh38]
Chr7:16298544 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3261_*3269delinsG indel Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000348239] Chr7:16088426..16088434 [GRCh38]
Chr7:16128051..16128059 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2379C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000403384] Chr7:16089316 [GRCh38]
Chr7:16128941 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1812C>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000319044] Chr7:16089883 [GRCh38]
Chr7:16129508 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*151G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000385829] Chr7:16091544 [GRCh38]
Chr7:16131169 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2801T>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000386326] Chr7:16088894 [GRCh38]
Chr7:16128519 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000798006]|not provided [RCV000727195]|not specified [RCV000517512] Chr7:16406318 [GRCh38]
Chr7:16445943 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2243_*2244del deletion Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000284387] Chr7:16089451..16089452 [GRCh38]
Chr7:16129076..16129077 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2846G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000320144] Chr7:16088849 [GRCh38]
Chr7:16128474 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.442A>C (p.Lys148Gln) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000335268] Chr7:16406153 [GRCh38]
Chr7:16445778 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1153dup duplication Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000350477] Chr7:16090541..16090542 [GRCh38]
Chr7:16130166..16130167 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3261A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000386488] Chr7:16088434 [GRCh38]
Chr7:16128059 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3196C>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000351869] Chr7:16088499 [GRCh38]
Chr7:16128124 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1146_*1152del deletion Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000296543] Chr7:16090543..16090549 [GRCh38]
Chr7:16130168..16130174 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*4116A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000370795] Chr7:16087579 [GRCh38]
Chr7:16127204 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2239A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000322941] Chr7:16089456 [GRCh38]
Chr7:16129081 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3491G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000322871] Chr7:16088204 [GRCh38]
Chr7:16127829 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*767T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000298175] Chr7:16090928 [GRCh38]
Chr7:16130553 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3187G>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000309566] Chr7:16088508 [GRCh38]
Chr7:16128133 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1152_*1153dup duplication Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000392053] Chr7:16090541..16090542 [GRCh38]
Chr7:16130166..16130167 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3806C>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000310200] Chr7:16087889 [GRCh38]
Chr7:16127514 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.816G>A (p.Ala272=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000553613] Chr7:16301440 [GRCh38]
Chr7:16341065 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2512A>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000288402] Chr7:16089183 [GRCh38]
Chr7:16128808 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1026+10T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000357657] Chr7:16258910 [GRCh38]
Chr7:16298535 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1338T>G (p.Gly446=) single nucleotide variant not provided [RCV000936007]|not specified [RCV000606011] Chr7:16091713 [GRCh38]
Chr7:16131338 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.*2188_*2191TGTA[1] microsatellite Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000313485] Chr7:16089500..16089503 [GRCh38]
Chr7:16129125..16129128 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2267del deletion Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000328895] Chr7:16089428 [GRCh38]
Chr7:16129053 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*831C>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000361195] Chr7:16090864 [GRCh38]
Chr7:16130489 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=) single nucleotide variant not provided [RCV000730559]|not specified [RCV000606970] Chr7:16301431 [GRCh38]
Chr7:16341056 [GRCh37]
Chr7:7p21.2
likely benign|uncertain significance
NM_001101426.4(CRPPA):c.561A>G (p.Val187=) single nucleotide variant not provided [RCV000592510] Chr7:16376215 [GRCh38]
Chr7:16415840 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.322_324ATT[1] (p.Ile109del) microsatellite not provided [RCV000592515] Chr7:16406268..16406270 [GRCh38]
Chr7:16445893..16445895 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1027-7C>T single nucleotide variant not provided [RCV000592551] Chr7:16258489 [GRCh38]
Chr7:16298114 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.722del (p.Leu241fs) deletion Muscular dystrophy, congenital, due to integrin alpha-7 deficiency [RCV000626153] Chr7:16308590 [GRCh38]
Chr7:16348215 [GRCh37]
Chr7:7p21.2
pathogenic|likely pathogenic
NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000550812] Chr7:16406239 [GRCh38]
Chr7:16445864 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.933+5G>C single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000623518] Chr7:16278124 [GRCh38]
Chr7:16317749 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1030dup (p.Thr344fs) duplication not provided [RCV000591099] Chr7:16258478..16258479 [GRCh38]
Chr7:16298103..16298104 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.915G>A (p.Val305=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001087976]|not provided [RCV000591370] Chr7:16278147 [GRCh38]
Chr7:16317772 [GRCh37]
Chr7:7p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.859G>A (p.Val287Ile) single nucleotide variant not provided [RCV000729997] Chr7:16278203 [GRCh38]
Chr7:16317828 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001082856]|not provided [RCV000731999] Chr7:16421080 [GRCh38]
Chr7:16460705 [GRCh37]
Chr7:7p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.1264C>T (p.Leu422=) single nucleotide variant not provided [RCV000729955] Chr7:16091787 [GRCh38]
Chr7:16131412 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.20G>A (p.Gly7Asp) single nucleotide variant not provided [RCV000735170] Chr7:16421303 [GRCh38]
Chr7:16460928 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1147C>A (p.Pro383Thr) single nucleotide variant not provided [RCV000732216] Chr7:16216170 [GRCh38]
Chr7:16255795 [GRCh37]
Chr7:7p21.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.715G>A (p.Glu239Lys) single nucleotide variant not provided [RCV000728823] Chr7:16308597 [GRCh38]
Chr7:16348222 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.117G>C (p.Glu39Asp) single nucleotide variant not provided [RCV000728830] Chr7:16421206 [GRCh38]
Chr7:16460831 [GRCh37]
Chr7:7p21.2
uncertain significance
NC_000007.13:g.16460895A>AA single nucleotide variant not provided [RCV000733996] Chr7:16421269..16421270 [GRCh38]
Chr7:16460895 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.668A>G (p.Tyr223Cys) single nucleotide variant not provided [RCV000733502] Chr7:16376108 [GRCh38]
Chr7:16415733 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1253A>G (p.Asp418Gly) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001161098]|not provided [RCV000733569] Chr7:16091798 [GRCh38]
Chr7:16131423 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.836-9T>A single nucleotide variant not provided [RCV000732776] Chr7:16278235 [GRCh38]
Chr7:16317860 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.872C>A (p.Thr291Lys) single nucleotide variant not provided [RCV000732808] Chr7:16278190 [GRCh38]
Chr7:16317815 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.160G>A (p.Gly54Arg) single nucleotide variant not provided [RCV000729150] Chr7:16421163 [GRCh38]
Chr7:16460788 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.7G>C (p.Ala3Pro) single nucleotide variant not provided [RCV000729329] Chr7:16421316 [GRCh38]
Chr7:16460941 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.890A>C (p.His297Pro) single nucleotide variant not provided [RCV000730866] Chr7:16278172 [GRCh38]
Chr7:16317797 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000819341]|not provided [RCV000998769]|not specified [RCV000413556] Chr7:16278167 [GRCh38]
Chr7:16317792 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.347G>A (p.Arg116His) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001161196]|not provided [RCV000734991] Chr7:16406248 [GRCh38]
Chr7:16445873 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.382A>G (p.Arg128Gly) single nucleotide variant not provided [RCV000729523] Chr7:16406213 [GRCh38]
Chr7:16445838 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001101426.4(CRPPA):c.1251+18C>T single nucleotide variant not specified [RCV000435090] Chr7:16216048 [GRCh38]
Chr7:16255673 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.790-14T>C single nucleotide variant not specified [RCV000439360] Chr7:16301480 [GRCh38]
Chr7:16341105 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.790-11C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164714]|not specified [RCV000429095] Chr7:16301477 [GRCh38]
Chr7:16341102 [GRCh37]
Chr7:7p21.2
likely benign|uncertain significance
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000680013] Chr7:16091697 [GRCh38]
Chr7:16131322 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.933+3A>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000557346]|not specified [RCV000419547] Chr7:16278126 [GRCh38]
Chr7:16317751 [GRCh37]
Chr7:7p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.222G>A (p.Arg74=) single nucleotide variant not specified [RCV000433670] Chr7:16421101 [GRCh38]
Chr7:16460726 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.685-19del deletion not specified [RCV000479572] Chr7:16308646 [GRCh38]
Chr7:16348271 [GRCh37]
Chr7:7p21.2
likely benign
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
NM_001101426.4(CRPPA):c.184del (p.Val62fs) deletion not provided [RCV000484862] Chr7:16421139 [GRCh38]
Chr7:16460764 [GRCh37]
Chr7:7p21.2
pathogenic|likely pathogenic
NM_001101426.4(CRPPA):c.613C>T (p.Arg205Cys) single nucleotide variant not provided [RCV000485952] Chr7:16376163 [GRCh38]
Chr7:16415788 [GRCh37]
Chr7:7p21.2
likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3
pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3
pathogenic
NM_001101426.4(CRPPA):c.165dup (p.Cys56fs) duplication Muscular dystrophy-dystroglycanopathy [RCV000500653] Chr7:16421157..16421158 [GRCh38]
Chr7:16460782..16460783 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.226C>G (p.Leu76Val) single nucleotide variant not specified [RCV000502190] Chr7:16421097 [GRCh38]
Chr7:16460722 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.978T>A (p.His326Gln) single nucleotide variant not provided [RCV000726630] Chr7:16258968 [GRCh38]
Chr7:16298593 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p21.2-21.1(chr7:14675063-18907030)x1 copy number loss See cases [RCV000511411] Chr7:14675063..18907030 [GRCh37]
Chr7:7p21.2-21.1
likely pathogenic
GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3 copy number gain See cases [RCV000511575] Chr7:7660104..18400293 [GRCh37]
Chr7:7p21.3-21.1
uncertain significance
NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001208625]|not provided [RCV000729934] Chr7:16216099 [GRCh38]
Chr7:16255724 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs) deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000532194] Chr7:16278176..16278188 [GRCh38]
Chr7:16317801..16317813 [GRCh37]
Chr7:7p21.2
pathogenic
GRCh37/hg19 7p21.2(chr7:16254552-16490580)x1 copy number loss See cases [RCV000511295] Chr7:16254552..16490580 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.1017T>C (p.Val339=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000560448] Chr7:16258929 [GRCh38]
Chr7:16298554 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.677A>G (p.Tyr226Cys) single nucleotide variant not provided [RCV000596392] Chr7:16376099 [GRCh38]
Chr7:16415724 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p21.2(chr7:16161141-16222888)x1 copy number loss not provided [RCV000585493] Chr7:16161141..16222888 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.1123_1126del (p.His375fs) deletion not provided [RCV000594040] Chr7:16216191..16216194 [GRCh38]
Chr7:16255816..16255819 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001086895]|not provided [RCV000727713]|not specified [RCV000607174] Chr7:16376131 [GRCh38]
Chr7:16415756 [GRCh37]
Chr7:7p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001101426.4(CRPPA):c.1170C>T (p.Asn390=) single nucleotide variant not specified [RCV000607368] Chr7:16216147 [GRCh38]
Chr7:16255772 [GRCh37]
Chr7:7p21.2
likely benign
NC_000007.13:g.(?_16341026)_(16348272_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000555664] Chr7:16341026..16348272 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.-21C>T single nucleotide variant not specified [RCV000612296] Chr7:16421343 [GRCh38]
Chr7:16460968 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.684+12G>C single nucleotide variant not specified [RCV000615955] Chr7:16376080 [GRCh38]
Chr7:16415705 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.258-3T>G single nucleotide variant not provided [RCV000597393] Chr7:16406340 [GRCh38]
Chr7:16445965 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.560T>C (p.Val187Ala) single nucleotide variant not provided [RCV000594724] Chr7:16376216 [GRCh38]
Chr7:16415841 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.602A>T (p.Tyr201Phe) single nucleotide variant not provided [RCV000597931] Chr7:16376174 [GRCh38]
Chr7:16415799 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000650389] Chr7:16258961 [GRCh38]
Chr7:16298586 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000650390] Chr7:16278215 [GRCh38]
Chr7:16317840 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000650391] Chr7:16421310 [GRCh38]
Chr7:16460935 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.408A>G (p.Ala136=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000650392] Chr7:16406187 [GRCh38]
Chr7:16445812 [GRCh37]
Chr7:7p21.2
likely benign
NC_000007.14:g.(?_16258370)_(16259032_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000650395] Chr7:16258370..16259032 [GRCh38]
Chr7:16297995..16298657 [GRCh37]
Chr7:7p21.2
likely pathogenic
NC_000007.14:g.(?_16216046)_(16216217_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000650396] Chr7:16216046..16216217 [GRCh38]
Chr7:16255671..16255842 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1251+16A>T single nucleotide variant not specified [RCV000613976] Chr7:16216050 [GRCh38]
Chr7:16255675 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164712]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000874661]|not specified [RCV000614290] Chr7:16278186 [GRCh38]
Chr7:16317811 [GRCh37]
Chr7:7p21.2
benign|likely benign|uncertain significance
NM_001101426.4(CRPPA):c.425T>A (p.Ile142Asn) single nucleotide variant not provided [RCV000597977] Chr7:16406170 [GRCh38]
Chr7:16445795 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000680012] Chr7:16091736 [GRCh38]
Chr7:16131361 [GRCh37]
Chr7:7p21.2
pathogenic
GRCh37/hg19 7p21.2(chr7:16346542-16403855)x1 copy number loss not provided [RCV000682762] Chr7:16346542..16403855 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p21.2(chr7:14584596-16342834)x3 copy number gain not provided [RCV000682890] Chr7:14584596..16342834 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p21.2(chr7:15586378-16262103)x1 copy number loss not provided [RCV000682861] Chr7:15586378..16262103 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3 copy number gain not provided [RCV000682908] Chr7:14544155..21719929 [GRCh37]
Chr7:7p21.2-15.3
pathogenic
NC_000007.14:g.(?_16216046)_(16376261_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000707781] Chr7:16216046..16376261 [GRCh38]
Chr7:16255671..16415886 [GRCh37]
Chr7:7p21.2
pathogenic
NC_000007.14:g.(?_16091675)_(16216217_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000707994] Chr7:16091675..16216217 [GRCh38]
Chr7:16131300..16255842 [GRCh37]
Chr7:7p21.2
pathogenic
NC_000007.14:g.(?_16376072)_(16376261_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000708083] Chr7:16376072..16376261 [GRCh38]
Chr7:16415697..16415886 [GRCh37]
Chr7:7p21.2
likely pathogenic
NM_001101426.4(CRPPA):c.614G>A (p.Arg205His) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000706667] Chr7:16376162 [GRCh38]
Chr7:16415787 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000702660] Chr7:16421130 [GRCh38]
Chr7:16460755 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000693712] Chr7:16421163 [GRCh38]
Chr7:16460788 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000696082] Chr7:16258956 [GRCh38]
Chr7:16298581 [GRCh37]
Chr7:7p21.2
uncertain significance
NC_000007.14:g.(?_16308523)_(16689906_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000708184] Chr7:16308523..16689906 [GRCh38]
Chr7:16348148..16729531 [GRCh37]
Chr7:7p21.2-21.1
pathogenic
NM_001101426.4(CRPPA):c.835+2T>C single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000706360] Chr7:16301419 [GRCh38]
Chr7:16341044 [GRCh37]
Chr7:7p21.2
likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p21.2(chr7:16085019-16127297)x1 copy number loss not provided [RCV000746522] Chr7:16085019..16127297 [GRCh37]
Chr7:7p21.2
benign
GRCh37/hg19 7p21.2(chr7:16163218-16173482)x0 copy number loss not provided [RCV000746523] Chr7:16163218..16173482 [GRCh37]
Chr7:7p21.2
benign
GRCh37/hg19 7p21.2(chr7:16168502-16173482)x0 copy number loss not provided [RCV000746524] Chr7:16168502..16173482 [GRCh37]
Chr7:7p21.2
benign
GRCh37/hg19 7p21.2(chr7:16168708-16173590)x0 copy number loss not provided [RCV000746525] Chr7:16168708..16173590 [GRCh37]
Chr7:7p21.2
benign
GRCh37/hg19 7p21.2(chr7:16319042-16445066)x1 copy number loss not provided [RCV000746526] Chr7:16319042..16445066 [GRCh37]
Chr7:7p21.2
benign
GRCh37/hg19 7p21.2(chr7:16351568-16401190)x1 copy number loss not provided [RCV000746527] Chr7:16351568..16401190 [GRCh37]
Chr7:7p21.2
benign
GRCh37/hg19 7p21.2(chr7:16436708-16440023)x3 copy number gain not provided [RCV000746528] Chr7:16436708..16440023 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.*2308A>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164404] Chr7:16089387 [GRCh38]
Chr7:16129012 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1848C>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164507] Chr7:16089847 [GRCh38]
Chr7:16129472 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3550G>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164182] Chr7:16088145 [GRCh38]
Chr7:16127770 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3525T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164183] Chr7:16088170 [GRCh38]
Chr7:16127795 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3075C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164285] Chr7:16088620 [GRCh38]
Chr7:16128245 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2981C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164286] Chr7:16088714 [GRCh38]
Chr7:16128339 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.*2915A>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164287] Chr7:16088780 [GRCh38]
Chr7:16128405 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.565A>T (p.Thr189Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001054925] Chr7:16376211 [GRCh38]
Chr7:16415836 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.886A>T (p.Lys296Ter) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000778144] Chr7:16278176 [GRCh38]
Chr7:16317801 [GRCh37]
Chr7:7p21.2
uncertain significance
NC_000007.14:g.(?_16301411)_(16308637_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000813346] Chr7:16301411..16308637 [GRCh38]
Chr7:16341036..16348262 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.42G>A (p.Pro14=) single nucleotide variant not provided [RCV000920951] Chr7:16421281 [GRCh38]
Chr7:16460906 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.1120-20C>G single nucleotide variant not provided [RCV000828382] Chr7:16216217 [GRCh38]
Chr7:16255842 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg) indel Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000822851] Chr7:16278187..16278188 [GRCh38]
Chr7:16317812..16317813 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000809604] Chr7:16376133 [GRCh38]
Chr7:16415758 [GRCh37]
Chr7:7p21.2
uncertain significance
NC_000007.14:g.(?_16258380)_(16259022_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000819210] Chr7:16258380..16259022 [GRCh38]
Chr7:16298005..16298647 [GRCh37]
Chr7:7p21.2
likely pathogenic
NM_001101426.4(CRPPA):c.934-130_934-129insA insertion not provided [RCV000841979] Chr7:16259141..16259142 [GRCh38]
Chr7:16298766..16298767 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.789+57T>G single nucleotide variant not provided [RCV000841980] Chr7:16308466 [GRCh38]
Chr7:16348091 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.1026+107A>C single nucleotide variant not provided [RCV000841981] Chr7:16258813 [GRCh38]
Chr7:16298438 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.933+127A>G single nucleotide variant not provided [RCV000841990] Chr7:16278002 [GRCh38]
Chr7:16317627 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.1251+252G>A single nucleotide variant not provided [RCV000831901] Chr7:16215814 [GRCh38]
Chr7:16255439 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000824546] Chr7:16376136 [GRCh38]
Chr7:16415761 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.347G>C (p.Arg116Pro) single nucleotide variant not provided [RCV000998770] Chr7:16406248 [GRCh38]
Chr7:16445873 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.171G>A (p.Gly57=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000891830] Chr7:16421152 [GRCh38]
Chr7:16460777 [GRCh37]
Chr7:7p21.2
likely benign
NC_000007.14:g.16258874_16258875del deletion not provided [RCV000829709]   benign
NM_001101426.4(CRPPA):c.1120-334C>T single nucleotide variant not provided [RCV000827882] Chr7:16216531 [GRCh38]
Chr7:16256156 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000813269] Chr7:16308539 [GRCh38]
Chr7:16348164 [GRCh37]
Chr7:7p21.2
pathogenic
NC_000007.14:g.(?_16308513)_(16376251_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000821278] Chr7:16308513..16376251 [GRCh38]
Chr7:16348138..16415876 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.-145A>G single nucleotide variant not provided [RCV000841959] Chr7:16421467 [GRCh38]
Chr7:16461092 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.257+164T>C single nucleotide variant not provided [RCV000841960] Chr7:16420902 [GRCh38]
Chr7:16460527 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.789+276C>T single nucleotide variant not provided [RCV000832890] Chr7:16308247 [GRCh38]
Chr7:16347872 [GRCh37]
Chr7:7p21.2
likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001101426.4(CRPPA):c.*2048G>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164505] Chr7:16089647 [GRCh38]
Chr7:16129272 [GRCh37]
Chr7:7p21.2
uncertain significance
NC_000007.14:g.(?_16091685)_(16091809_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000820588] Chr7:16091685..16091809 [GRCh38]
Chr7:16131310..16131434 [GRCh37]
Chr7:7p21.2
uncertain significance
NC_000007.14:g.(?_16216056)_(16216207_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000820604] Chr7:16216056..16216207 [GRCh38]
Chr7:16255681..16255832 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.836-5T>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000793995] Chr7:16278231 [GRCh38]
Chr7:16317856 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1120-291C>T single nucleotide variant not provided [RCV000833620] Chr7:16216488 [GRCh38]
Chr7:16256113 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.789+321T>A single nucleotide variant not provided [RCV000843819] Chr7:16308202 [GRCh38]
Chr7:16347827 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.258-125T>A single nucleotide variant not provided [RCV000841976] Chr7:16406462 [GRCh38]
Chr7:16446087 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.257+203C>G single nucleotide variant not provided [RCV000841977] Chr7:16420863 [GRCh38]
Chr7:16460488 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.789+89A>G single nucleotide variant not provided [RCV000841978] Chr7:16308434 [GRCh38]
Chr7:16348059 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.933+87A>G single nucleotide variant not provided [RCV000841983] Chr7:16278042 [GRCh38]
Chr7:16317667 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.1026+111A>G single nucleotide variant not provided [RCV000841984] Chr7:16258809 [GRCh38]
Chr7:16298434 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.1251+89T>A single nucleotide variant not provided [RCV000841985] Chr7:16215977 [GRCh38]
Chr7:16255602 [GRCh37]
Chr7:7p21.2
benign
GRCh37/hg19 7p21.2-21.1(chr7:16027951-17081157)x3 copy number gain not provided [RCV001005919] Chr7:16027951..17081157 [GRCh37]
Chr7:7p21.2-21.1
likely benign
NM_001101426.4(CRPPA):c.*2328G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164400] Chr7:16089367 [GRCh38]
Chr7:16128992 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.*2313C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164403] Chr7:16089382 [GRCh38]
Chr7:16129007 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2089C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164503] Chr7:16089606 [GRCh38]
Chr7:16129231 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p21.2(chr7:16369989-16486969)x1 copy number loss not provided [RCV000849252] Chr7:16369989..16486969 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.*4159T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162153] Chr7:16087536 [GRCh38]
Chr7:16127161 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2155A>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162458] Chr7:16089540 [GRCh38]
Chr7:16129165 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.*4069C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162154] Chr7:16087626 [GRCh38]
Chr7:16127251 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p21.2(chr7:15941738-16172247)x1 copy number loss not provided [RCV001005918] Chr7:15941738..16172247 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3146G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162255] Chr7:16088549 [GRCh38]
Chr7:16128174 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.508G>A (p.Val170Ile) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001211219] Chr7:16406087 [GRCh38]
Chr7:16445712 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys) single nucleotide variant ISPD-Related Disorder [RCV000984962]|Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 [RCV001004947] Chr7:16406219 [GRCh38]
Chr7:16445844 [GRCh37]
Chr7:7p21.2
likely pathogenic|uncertain significance
NM_001101426.4(CRPPA):c.1175T>G (p.Met392Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001214050] Chr7:16216142 [GRCh38]
Chr7:16255767 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.695A>G (p.Tyr232Cys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001222264] Chr7:16308617 [GRCh38]
Chr7:16348242 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1148C>A (p.Pro383His) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001224660] Chr7:16216169 [GRCh38]
Chr7:16255794 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.577C>T (p.Pro193Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001240908] Chr7:16376199 [GRCh38]
Chr7:16415824 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.704_705del (p.Glu235fs) deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001226801] Chr7:16308607..16308608 [GRCh38]
Chr7:16348232..16348233 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.221G>T (p.Arg74Met) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001217960] Chr7:16421102 [GRCh38]
Chr7:16460727 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.334T>G (p.Tyr112Asp) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001225891] Chr7:16406261 [GRCh38]
Chr7:16445886 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.676T>C (p.Tyr226His) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001232279] Chr7:16376100 [GRCh38]
Chr7:16415725 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1226A>G (p.Tyr409Cys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001221788] Chr7:16216091 [GRCh38]
Chr7:16255716 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.868G>A (p.Asp290Asn) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001226066] Chr7:16278194 [GRCh38]
Chr7:16317819 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.933+1G>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001228819] Chr7:16278128 [GRCh38]
Chr7:16317753 [GRCh37]
Chr7:7p21.2
likely pathogenic
GRCh37/hg19 7p21.2(chr7:15586378-16252720)x3 copy number gain not provided [RCV000846993] Chr7:15586378..16252720 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
NM_001101426.4(CRPPA):c.*517G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164597] Chr7:16091178 [GRCh38]
Chr7:16130803 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*450T>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164598] Chr7:16091245 [GRCh38]
Chr7:16130870 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.*2518G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159373] Chr7:16089177 [GRCh38]
Chr7:16128802 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2491C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159374] Chr7:16089204 [GRCh38]
Chr7:16128829 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.*2465C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001160738] Chr7:16089230 [GRCh38]
Chr7:16128855 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2403C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001160741] Chr7:16089292 [GRCh38]
Chr7:16128917 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2225A>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001160831] Chr7:16089470 [GRCh38]
Chr7:16129095 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1442G>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001160955] Chr7:16090253 [GRCh38]
Chr7:16129878 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1357A>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001160957] Chr7:16090338 [GRCh38]
Chr7:16129963 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2325C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164402] Chr7:16089370 [GRCh38]
Chr7:16128995 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.836-19_836-18dup duplication not provided [RCV000876806] Chr7:16278234..16278235 [GRCh38]
Chr7:16317859..16317860 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.252G>A (p.Leu84=) single nucleotide variant not provided [RCV000979200] Chr7:16421071 [GRCh38]
Chr7:16460696 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.257+10C>A single nucleotide variant not provided [RCV000905725] Chr7:16421056 [GRCh38]
Chr7:16460681 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.1120-10T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162650]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV000954104] Chr7:16216207 [GRCh38]
Chr7:16255832 [GRCh37]
Chr7:7p21.2
likely benign|uncertain significance
NM_001101426.4(CRPPA):c.*4000G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164180] Chr7:16087695 [GRCh38]
Chr7:16127320 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.315G>T (p.Met105Ile) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001047304] Chr7:16406280 [GRCh38]
Chr7:16445905 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2775G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164288] Chr7:16088920 [GRCh38]
Chr7:16128545 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2302A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164405] Chr7:16089393 [GRCh38]
Chr7:16129018 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2263A>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159462] Chr7:16089432 [GRCh38]
Chr7:16129057 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2248C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159464] Chr7:16089447 [GRCh38]
Chr7:16129072 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1801A>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159571] Chr7:16089894 [GRCh38]
Chr7:16129519 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1742A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159572] Chr7:16089953 [GRCh38]
Chr7:16129578 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*362G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159685] Chr7:16091333 [GRCh38]
Chr7:16130958 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*283G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159687] Chr7:16091412 [GRCh38]
Chr7:16131037 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.597A>C (p.Leu199Phe) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159795] Chr7:16376179 [GRCh38]
Chr7:16415804 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2408G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001160740] Chr7:16089287 [GRCh38]
Chr7:16128912 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1 copy number loss not provided [RCV001005911] Chr7:13886653..20267202 [GRCh37]
Chr7:7p21.2-21.1
pathogenic
NM_001101426.4(CRPPA):c.*3076G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162257] Chr7:16088619 [GRCh38]
Chr7:16128244 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2349T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162357] Chr7:16089346 [GRCh38]
Chr7:16128971 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2333T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162358] Chr7:16089362 [GRCh38]
Chr7:16128987 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.1251+11T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162648] Chr7:16216055 [GRCh38]
Chr7:16255680 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1133A>G (p.Asp378Gly) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162649]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001338263] Chr7:16216184 [GRCh38]
Chr7:16255809 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.262T>C (p.Cys88Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001053262] Chr7:16406333 [GRCh38]
Chr7:16445958 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.674C>G (p.Ala225Gly) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001053527] Chr7:16376102 [GRCh38]
Chr7:16415727 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1365C>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001160956] Chr7:16090330 [GRCh38]
Chr7:16129955 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*86A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001161094] Chr7:16091609 [GRCh38]
Chr7:16131234 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.1345C>T (p.Leu449=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001161097] Chr7:16091706 [GRCh38]
Chr7:16131331 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3457G>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159279] Chr7:16088238 [GRCh38]
Chr7:16127863 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2635A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159371] Chr7:16089060 [GRCh38]
Chr7:16128685 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2519T>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159372] Chr7:16089176 [GRCh38]
Chr7:16128801 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1704C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159573] Chr7:16089991 [GRCh38]
Chr7:16129616 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1518C>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159574] Chr7:16090177 [GRCh38]
Chr7:16129802 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*354T>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159686] Chr7:16091341 [GRCh38]
Chr7:16130966 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3374C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159281] Chr7:16088321 [GRCh38]
Chr7:16127946 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.*3283G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159284] Chr7:16088412 [GRCh38]
Chr7:16128037 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2279G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159460] Chr7:16089416 [GRCh38]
Chr7:16129041 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2250C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159463] Chr7:16089445 [GRCh38]
Chr7:16129070 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3217G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001160639] Chr7:16088478 [GRCh38]
Chr7:16128103 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2459C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001160739] Chr7:16089236 [GRCh38]
Chr7:16128861 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.550C>G (p.Arg184Gly) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001038971] Chr7:16376226 [GRCh38]
Chr7:16415851 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.124C>T (p.Arg42Cys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001042452] Chr7:16421199 [GRCh38]
Chr7:16460824 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3121A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162256] Chr7:16088574 [GRCh38]
Chr7:16128199 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*940A>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162550] Chr7:16090755 [GRCh38]
Chr7:16130380 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001234441] Chr7:16216119 [GRCh38]
Chr7:16255744 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.58G>A (p.Gly20Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001047319] Chr7:16421265 [GRCh38]
Chr7:16460890 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2110C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162459] Chr7:16089585 [GRCh38]
Chr7:16129210 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*884G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001162551] Chr7:16090811 [GRCh38]
Chr7:16130436 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1350A>G (p.Ile450Met) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001057851] Chr7:16091701 [GRCh38]
Chr7:16131326 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.32C>T (p.Pro11Leu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001203343] Chr7:16421291 [GRCh38]
Chr7:16460916 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2030A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164506] Chr7:16089665 [GRCh38]
Chr7:16129290 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*584T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164596] Chr7:16091111 [GRCh38]
Chr7:16130736 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.646G>T (p.Ala216Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001064384] Chr7:16376130 [GRCh38]
Chr7:16415755 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1354T>C (p.Ter452Arg) single nucleotide variant not provided [RCV001092555] Chr7:16091697 [GRCh38]
Chr7:16131322 [GRCh37]
Chr7:7p21.2
pathogenic
NM_001101426.4(CRPPA):c.661G>A (p.Val221Met) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001233957] Chr7:16376115 [GRCh38]
Chr7:16415740 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.165del (p.Cys56fs) deletion not provided [RCV001008243] Chr7:16421158 [GRCh38]
Chr7:16460783 [GRCh37]
Chr7:7p21.2
likely pathogenic
NM_001101426.4(CRPPA):c.*3395A>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159280] Chr7:16088300 [GRCh38]
Chr7:16127925 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3362C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159282] Chr7:16088333 [GRCh38]
Chr7:16127958 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3284A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159283] Chr7:16088411 [GRCh38]
Chr7:16128036 [GRCh37]
Chr7:7p21.2
likely benign
NM_001101426.4(CRPPA):c.*2265A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159461] Chr7:16089430 [GRCh38]
Chr7:16129055 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2237A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001159465] Chr7:16089458 [GRCh38]
Chr7:16129083 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3561A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164181] Chr7:16088134 [GRCh38]
Chr7:16127759 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2326A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164401] Chr7:16089369 [GRCh38]
Chr7:16128994 [GRCh37]
Chr7:7p21.2
benign
NM_001101426.4(CRPPA):c.*2088C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001164504] Chr7:16089607 [GRCh38]
Chr7:16129232 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*3189G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001160640] Chr7:16088506 [GRCh38]
Chr7:16128131 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*2383T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001160742] Chr7:16089312 [GRCh38]
Chr7:16128937 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1148A>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001160958] Chr7:16090547 [GRCh38]
Chr7:16130172 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*1148A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001160959] Chr7:16090547 [GRCh38]
Chr7:16130172 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*76G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001161095] Chr7:16091619 [GRCh38]
Chr7:16131244 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.*62G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001161096] Chr7:16091633 [GRCh38]
Chr7:16131258 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.815C>T (p.Ala272Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001213884] Chr7:16301441 [GRCh38]
Chr7:16341066 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p21.2-21.1(chr7:16279316-18429845)x1 copy number loss not provided [RCV001259423] Chr7:16279316..18429845 [GRCh37]
Chr7:7p21.2-21.1
uncertain significance
GRCh37/hg19 7p21.2(chr7:16037097-16320719)x1 copy number loss not provided [RCV001259421] Chr7:16037097..16320719 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1 copy number loss Saethre-Chotzen syndrome [RCV001263216] Chr7:14470668..20385165 [GRCh37]
Chr7:7p21.2-21.1
pathogenic
NM_001101426.4(CRPPA):c.993C>G (p.Ile331Met) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001295629] Chr7:16258953 [GRCh38]
Chr7:16298578 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.283G>T (p.Val95Leu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001301875] Chr7:16406312 [GRCh38]
Chr7:16445937 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1275T>A (p.Ser425Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001302126] Chr7:16091776 [GRCh38]
Chr7:16131401 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1272G>C (p.Glu424Asp) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001300437] Chr7:16091779 [GRCh38]
Chr7:16131404 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.534G>C (p.Gly178=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001321718] Chr7:16406061 [GRCh38]
Chr7:16445686 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.43G>T (p.Gly15Cys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001350079] Chr7:16421280 [GRCh38]
Chr7:16460905 [GRCh37]
Chr7:7p21.2
uncertain significance
NC_000007.13:g.(?_16415697)_(16415886_?)dup duplication Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001295199] Chr7:16415697..16415886 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1A>G (p.Met1Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001313902] Chr7:16421322 [GRCh38]
Chr7:16460947 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.288A>G (p.Ala96=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001344824] Chr7:16406307 [GRCh38]
Chr7:16445932 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1040A>T (p.Asp347Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001346803] Chr7:16258469 [GRCh38]
Chr7:16298094 [GRCh37]
Chr7:7p21.2
uncertain significance
NC_000007.13:g.(?_16131310)_(16131434_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001324193] Chr7:16131310..16131434 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1139A>T (p.Lys380Ile) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001346066] Chr7:16216178 [GRCh38]
Chr7:16255803 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.1252G>T (p.Asp418Tyr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001300564] Chr7:16091799 [GRCh38]
Chr7:16131424 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.36_44del (p.Glu13_Gly15del) deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001304886] Chr7:16421279..16421287 [GRCh38]
Chr7:16460904..16460912 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_001101426.4(CRPPA):c.824C>T (p.Ser275Leu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 [RCV001351728] Chr7:16301432 [GRCh38]
Chr7:16341057 [GRCh37]
Chr7:7p21.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:37276 AgrOrtholog
COSMIC CRPPA COSMIC
Ensembl Genes ENSG00000214960 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000382249 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385478 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501664 UniProtKB/TrEMBL
  ENSP00000502074 UniProtKB/TrEMBL
  ENSP00000502749 UniProtKB/TrEMBL
Ensembl Transcript ENST00000399310 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000407010 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000674759 UniProtKB/TrEMBL
  ENST00000675257 UniProtKB/TrEMBL
  ENST00000676325 UniProtKB/TrEMBL
Gene3D-CATH 3.90.550.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000214960 GTEx
HGNC ID HGNC:37276 ENTREZGENE
Human Proteome Map CRPPA Human Proteome Map
InterPro IspD/TarI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISPD_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISPD_synthase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:729920 UniProtKB/Swiss-Prot
NCBI Gene 729920 ENTREZGENE
OMIM 614631 OMIM
  614643 OMIM
  616052 OMIM
Pfam IspD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISPD_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165618128 PharmGKB
PROSITE ISPD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJM1 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PF75_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG39_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHI3_HUMAN UniProtKB/TrEMBL
  A4D126 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8MU35 UniProtKB/Swiss-Prot
  H9KVB2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-15 CRPPA  CDP-L-ribitol pyrophosphorylase A  ISPD  isoprenoid synthase domain containing  Symbol and/or name change 5135510 APPROVED
2012-05-08 ISPD  isoprenoid synthase domain containing  ISPD  isoprenoid synthase domain containing  Symbol and/or name change 5135510 APPROVED