FAM126A (family with sequence similarity 126 member A) - Rat Genome Database
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Gene: FAM126A (family with sequence similarity 126 member A) Homo sapiens
Analyze
Symbol: FAM126A
Name: family with sequence similarity 126 member A
RGD ID: 1606763
HGNC Page HGNC
Description: Involved in phosphatidylinositol phosphorylation and protein localization to plasma membrane. Localizes to cytosol and plasma membrane. Implicated in hypomyelinating leukodystrophy 5.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: down regulated by Ctnnb1, a; down-regulated by CTNNB1 protein A; DRCTNNB1A; family with sequence similarity 126, member A; HCC; HLD5; HYCC1; hyccin
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 Ensembl722,889,371 - 23,014,130 (-)EnsemblGRCh38hg38GRCh38
GRCh38722,895,848 - 23,014,133 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37722,973,830 - 23,053,749 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36722,949,783 - 23,020,273 (-)NCBINCBI36hg18NCBI36
Celera722,967,200 - 23,040,064 (-)NCBI
Cytogenetic Map7p15.3NCBI
HuRef722,864,258 - 22,937,122 (-)NCBIHuRef
CHM1_1722,981,792 - 23,054,656 (-)NCBICHM1_1
CRA_TCAGchr7v2723,032,723 - 23,105,592 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IDA,IEA)
neuron projection  (ISO)
plasma membrane  (IBA,IDA,IEA)

Molecular Function

References

Additional References at PubMed
PMID:10910037   PMID:12477932   PMID:12690205   PMID:12853948   PMID:14702039   PMID:15146197   PMID:15489334   PMID:16344560   PMID:16951682   PMID:17928815   PMID:18029348   PMID:20301737  
PMID:21254220   PMID:21873635   PMID:21911699   PMID:22749724   PMID:23998934   PMID:24024966   PMID:24417797   PMID:24501781   PMID:25468996   PMID:26186194   PMID:26460568   PMID:26496610  
PMID:26571211   PMID:26871637   PMID:28514442   PMID:29229838   PMID:30103315   PMID:30194290   PMID:30639242   PMID:31586073   PMID:32296183  


Genomics

Comparative Map Data
FAM126A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl722,889,371 - 23,014,130 (-)EnsemblGRCh38hg38GRCh38
GRCh38722,895,848 - 23,014,133 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37722,973,830 - 23,053,749 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36722,949,783 - 23,020,273 (-)NCBINCBI36hg18NCBI36
Celera722,967,200 - 23,040,064 (-)NCBI
Cytogenetic Map7p15.3NCBI
HuRef722,864,258 - 22,937,122 (-)NCBIHuRef
CHM1_1722,981,792 - 23,054,656 (-)NCBICHM1_1
CRA_TCAGchr7v2723,032,723 - 23,105,592 (-)NCBI
Fam126a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39524,120,274 - 24,235,723 (-)NCBIGRCm39mm39
GRCm39 Ensembl524,120,274 - 24,235,688 (-)Ensembl
GRCm38523,915,276 - 24,030,696 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl523,915,276 - 24,030,690 (-)EnsemblGRCm38mm10GRCm38
MGSCv37523,466,749 - 23,536,501 (-)NCBIGRCm37mm9NCBIm37
MGSCv36523,471,095 - 23,540,734 (-)NCBImm8
Celera520,907,460 - 20,980,419 (-)NCBICelera
Cytogenetic Map5A3NCBI
Fam126a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2411,132,224 - 11,239,120 (+)NCBI
Rnor_6.0 Ensembl47,661,558 - 7,770,232 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.047,661,710 - 7,770,179 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.047,670,158 - 7,731,263 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.446,500,425 - 6,559,978 (+)NCBIRGSC3.4rn4RGSC3.4
Celera46,746,100 - 6,805,912 (+)NCBICelera
Cytogenetic Map4q11NCBI
Fam126a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541025,227,280 - 25,342,106 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541025,274,360 - 25,342,112 (-)NCBIChiLan1.0ChiLan1.0
FAM126A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1723,250,256 - 23,320,970 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl723,251,468 - 23,298,201 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0723,639,552 - 23,710,910 (-)NCBIMhudiblu_PPA_v0panPan3
FAM126A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11436,594,263 - 36,718,960 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1436,619,971 - 36,718,895 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1436,135,405 - 36,260,642 (-)NCBI
ROS_Cfam_1.01436,518,565 - 36,643,232 (-)NCBI
UMICH_Zoey_3.11436,639,794 - 36,765,082 (-)NCBI
UNSW_CanFamBas_1.01436,336,162 - 36,462,554 (-)NCBI
UU_Cfam_GSD_1.01436,673,376 - 36,798,691 (-)NCBI
Fam126a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_02440511880,903,053 - 81,001,379 (-)NCBI
SpeTri2.0NW_004936478139,710 - 213,083 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM126A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl991,729,054 - 91,821,619 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1991,729,044 - 91,821,629 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29101,207,486 - 101,296,309 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAM126A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12135,302,634 - 35,376,364 (+)NCBI
ChlSab1.1 Ensembl2135,302,687 - 35,372,055 (+)Ensembl
Fam126a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247397,664,507 - 7,756,571 (+)NCBI

Position Markers
D17S1308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3717623,167 - 623,468UniSTSGRCh37
Build 3617569,917 - 570,218RGDNCBI36
Celera17634,933 - 635,238RGD
Cytogenetic Map17p13UniSTS
HuRef17533,715 - 534,016UniSTS
Marshfield Genetic Map170.63UniSTS
Marshfield Genetic Map170.63RGD
Whitehead-RH Map1724.7UniSTS
NCBI RH Map1732.2UniSTS
STS-H44951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37722,981,643 - 22,981,875UniSTSGRCh37
Build 36722,948,168 - 22,948,400RGDNCBI36
Celera722,967,965 - 22,968,197RGD
Cytogenetic Map7p15.3UniSTS
HuRef722,865,023 - 22,865,255UniSTS
CRA_TCAGchr7v2723,033,488 - 23,033,720UniSTS
GeneMap99-GB4 RH Map799.41UniSTS
SHGC-34206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37722,981,652 - 22,981,781UniSTSGRCh37
Build 36722,948,177 - 22,948,306RGDNCBI36
Celera722,967,974 - 22,968,103RGD
Cytogenetic Map7p15.3UniSTS
HuRef722,865,032 - 22,865,161UniSTS
CRA_TCAGchr7v2723,033,497 - 23,033,626UniSTS
GeneMap99-GB4 RH Map794.66UniSTS
Whitehead-RH Map761.0UniSTS
NCBI RH Map7386.8UniSTS
GeneMap99-G3 RH Map7843.0UniSTS
RH94305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37722,984,087 - 22,984,263UniSTSGRCh37
Build 36722,950,612 - 22,950,788RGDNCBI36
Celera722,970,409 - 22,970,585RGD
Cytogenetic Map7p15.3UniSTS
HuRef722,867,467 - 22,867,643UniSTS
CRA_TCAGchr7v2723,035,932 - 23,036,108UniSTS
GeneMap99-GB4 RH Map799.41UniSTS
RH91850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37723,017,814 - 23,017,955UniSTSGRCh37
Build 36722,984,339 - 22,984,480RGDNCBI36
Celera723,004,139 - 23,004,280RGD
Cytogenetic Map7p15.3UniSTS
HuRef722,901,201 - 22,901,342UniSTS
CRA_TCAGchr7v2723,069,662 - 23,069,803UniSTS
GeneMap99-GB4 RH Map794.66UniSTS
RH93616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37722,985,253 - 22,985,402UniSTSGRCh37
Build 36722,951,778 - 22,951,927RGDNCBI36
Celera722,971,575 - 22,971,724RGD
Cytogenetic Map7p15.3UniSTS
HuRef722,868,633 - 22,868,782UniSTS
CRA_TCAGchr7v2723,037,098 - 23,037,247UniSTS
GeneMap99-GB4 RH Map794.66UniSTS
SHGC-106385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37722,985,109 - 22,985,444UniSTSGRCh37
Build 36722,951,634 - 22,951,969RGDNCBI36
Celera722,971,431 - 22,971,766RGD
Cytogenetic Map7p15.3UniSTS
HuRef722,868,489 - 22,868,824UniSTS
CRA_TCAGchr7v2723,036,954 - 23,037,289UniSTS
TNG Radiation Hybrid Map710401.0UniSTS
SHGC-132520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37722,981,521 - 22,981,776UniSTSGRCh37
Build 36722,948,046 - 22,948,301RGDNCBI36
Celera722,967,843 - 22,968,098RGD
Cytogenetic Map7p15.3UniSTS
HuRef722,864,901 - 22,865,156UniSTS
CRA_TCAGchr7v2723,033,366 - 23,033,621UniSTS
TNG Radiation Hybrid Map710401.0UniSTS
SHGC-36561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37722,980,895 - 22,981,020UniSTSGRCh37
Build 36722,947,420 - 22,947,545RGDNCBI36
Celera722,967,217 - 22,967,342RGD
Cytogenetic Map7p15.3UniSTS
HuRef722,864,275 - 22,864,400UniSTS
CRA_TCAGchr7v2723,032,740 - 23,032,865UniSTS
TNG Radiation Hybrid Map710412.0UniSTS
Stanford-G3 RH Map7827.0UniSTS
GeneMap99-G3 RH Map7827.0UniSTS
D17S695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3717746,152 - 746,356UniSTSGRCh37
Build 3617692,902 - 693,106RGDNCBI36
Celera17757,855 - 758,059RGD
Cytogenetic Map17p13UniSTS
Cytogenetic Map17p13.3UniSTS
HuRef17655,211 - 655,407UniSTS
D7S732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37723,031,812 - 23,031,873UniSTSGRCh37
Build 36722,998,337 - 22,998,398RGDNCBI36
Celera723,018,111 - 23,018,172RGD
Cytogenetic Map7p15.3UniSTS
HuRef722,915,176 - 22,915,237UniSTS
CRA_TCAGchr7v2723,083,640 - 23,083,701UniSTS
RH45328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37722,981,170 - 22,981,291UniSTSGRCh37
Build 36722,947,695 - 22,947,816RGDNCBI36
Celera722,967,492 - 22,967,613RGD
Cytogenetic Map7p15.3UniSTS
HuRef722,864,550 - 22,864,671UniSTS
CRA_TCAGchr7v2723,033,015 - 23,033,136UniSTS
GeneMap99-GB4 RH Map799.41UniSTS
G20254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37722,980,943 - 22,981,053UniSTSGRCh37
Build 36722,947,468 - 22,947,578RGDNCBI36
Celera722,967,265 - 22,967,375RGD
Cytogenetic Map7p15.3UniSTS
HuRef722,864,323 - 22,864,433UniSTS
CRA_TCAGchr7v2723,032,788 - 23,032,898UniSTS
A005A03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37722,980,943 - 22,981,053UniSTSGRCh37
Build 36722,947,468 - 22,947,578RGDNCBI36
Celera722,967,265 - 22,967,375RGD
Cytogenetic Map7p15.3UniSTS
HuRef722,864,323 - 22,864,433UniSTS
CRA_TCAGchr7v2723,032,788 - 23,032,898UniSTS
GeneMap99-GB4 RH Map799.41UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR374Ahsa-miR-374a-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:4315
Count of miRNA genes:1016
Interacting mature miRNAs:1230
Transcripts:ENST00000409763, ENST00000409923, ENST00000432176, ENST00000440481, ENST00000465661, ENST00000467005, ENST00000477349, ENST00000498833
Prediction methods:Microtar, 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 312 661 115 46 703 46 1346 337 449 84 242 583 9 576 702 2
Low 2095 2079 1611 578 1000 419 3011 1856 3132 335 1215 1027 166 1 628 2086 4 2
Below cutoff 30 251 248 4 153 3 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA811006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB030241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640757 (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
  CN389323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA485353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB099987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000409763   ⟹   ENSP00000386624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,978,164 - 23,014,074 (-)Ensembl
RefSeq Acc Id: ENST00000409923   ⟹   ENSP00000386246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,944,509 - 23,014,084 (-)Ensembl
RefSeq Acc Id: ENST00000421730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,889,371 - 22,941,190 (-)Ensembl
RefSeq Acc Id: ENST00000432176   ⟹   ENSP00000403396
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,934,211 - 23,014,130 (-)Ensembl
RefSeq Acc Id: ENST00000440481   ⟹   ENSP00000397168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,941,269 - 23,014,130 (-)Ensembl
RefSeq Acc Id: ENST00000465661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,983,994 - 23,014,130 (-)Ensembl
RefSeq Acc Id: ENST00000467005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,983,750 - 23,014,091 (-)Ensembl
RefSeq Acc Id: ENST00000477349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,976,769 - 23,014,088 (-)Ensembl
RefSeq Acc Id: ENST00000498833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,945,983 - 22,961,316 (-)Ensembl
RefSeq Acc Id: ENST00000679789   ⟹   ENSP00000506308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,944,276 - 23,014,088 (-)Ensembl
RefSeq Acc Id: ENST00000679826   ⟹   ENSP00000505460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,941,340 - 23,014,084 (-)Ensembl
RefSeq Acc Id: ENST00000680721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,941,824 - 22,976,858 (-)Ensembl
RefSeq Acc Id: ENST00000681079   ⟹   ENSP00000506370
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,945,572 - 23,014,087 (-)Ensembl
RefSeq Acc Id: ENST00000681237   ⟹   ENSP00000505270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,941,824 - 23,014,130 (-)Ensembl
RefSeq Acc Id: ENST00000681402   ⟹   ENSP00000506692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,941,368 - 23,014,088 (-)Ensembl
RefSeq Acc Id: ENST00000681468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,980,321 - 23,014,088 (-)Ensembl
RefSeq Acc Id: ENST00000681766   ⟹   ENSP00000505161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl722,944,651 - 23,014,087 (-)Ensembl
RefSeq Acc Id: NM_001363466   ⟹   NP_001350395
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38722,934,211 - 23,014,130 (-)NCBI
RefSeq Acc Id: NM_001363467   ⟹   NP_001350396
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38722,934,211 - 23,014,130 (-)NCBI
RefSeq Acc Id: NM_032581   ⟹   NP_115970
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38722,934,211 - 23,014,130 (-)NCBI
GRCh37722,980,878 - 23,053,814 (-)NCBI
Build 36722,949,783 - 23,020,273 (-)NCBI Archive
Celera722,967,200 - 23,040,064 (-)RGD
HuRef722,864,258 - 22,937,122 (-)RGD
CHM1_1722,981,792 - 23,054,656 (-)NCBI
CRA_TCAGchr7v2723,032,723 - 23,105,592 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011515589   ⟹   XP_011513891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38722,941,259 - 23,013,066 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515590   ⟹   XP_011513892
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38722,895,848 - 23,014,133 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_115970   ⟸   NM_032581
- Peptide Label: isoform 1
- UniProtKB: Q9BYI3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513892   ⟸   XM_011515590
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011513891   ⟸   XM_011515589
- Peptide Label: isoform X1
- UniProtKB: Q9BYI3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350396   ⟸   NM_001363467
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001350395   ⟸   NM_001363466
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000397168   ⟸   ENST00000440481
RefSeq Acc Id: ENSP00000403396   ⟸   ENST00000432176
RefSeq Acc Id: ENSP00000386246   ⟸   ENST00000409923
RefSeq Acc Id: ENSP00000386624   ⟸   ENST00000409763
RefSeq Acc Id: ENSP00000505161   ⟸   ENST00000681766
RefSeq Acc Id: ENSP00000506692   ⟸   ENST00000681402
RefSeq Acc Id: ENSP00000506370   ⟸   ENST00000681079
RefSeq Acc Id: ENSP00000505270   ⟸   ENST00000681237
RefSeq Acc Id: ENSP00000506308   ⟸   ENST00000679789
RefSeq Acc Id: ENSP00000505460   ⟸   ENST00000679826

Promoters
RGD ID:7210083
Promoter ID:EPDNEW_H10787
Type:initiation region
Name:FAM126A_1
Description:family with sequence similarity 126 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10788  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38723,014,088 - 23,014,148EPDNEW
RGD ID:6805492
Promoter ID:HG_KWN:56535
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409763,   ENST00000409923,   NM_032581,   OTTHUMT00000326863,   OTTHUMT00000326864,   OTTHUMT00000326865,   UC003SVN.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36723,019,964 - 23,020,464 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032581.4(FAM126A):c.125dup (p.Tyr42Ter) duplication not provided [RCV000521546] Chr7:22983971..22983972 [GRCh38]
Chr7:23023590..23023591 [GRCh37]
Chr7:7p15.3
pathogenic
FAM126A:c.627-439_831+348del deletion Hypomyelination and Congenital Cataract [RCV000020928] Chr7:22960887..22964970 [GRCh38]
Chr7:23000506..23004589 [GRCh37]
Chr7:7p15.3
pathogenic
NM_032581.4(FAM126A):c.624A>G (p.Ser208=) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000020929]|not provided [RCV000836670]|not specified [RCV000244607] Chr7:22976212 [GRCh38]
Chr7:23015831 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.414+1G>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV000144432] Chr7:22977340 [GRCh38]
Chr7:23016959 [GRCh37]
Chr7:7p15.3
not provided
NM_032581.4(FAM126A):c.51+1G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000001273] Chr7:22991060 [GRCh38]
Chr7:23030679 [GRCh37]
Chr7:7p15.3
pathogenic
NM_032581.4(FAM126A):c.414+1G>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000001274] Chr7:22977340 [GRCh38]
Chr7:23016959 [GRCh37]
Chr7:7p15.3
pathogenic
NM_032581.4(FAM126A):c.158T>C (p.Leu53Pro) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000001275] Chr7:22978444 [GRCh38]
Chr7:23018063 [GRCh37]
Chr7:7p15.3
pathogenic
FAM126A, 4-KB DEL deletion Hypomyelination and Congenital Cataract [RCV000001276] Chr7:7p15.3 pathogenic
NM_032581.4(FAM126A):c.832-14dup duplication not provided [RCV000548171] Chr7:22960423..22960424 [GRCh38]
Chr7:23000042..23000043 [GRCh37]
Chr7:7p15.3
benign
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 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 7p15.3(chr7:22955449-23155175)x1 copy number loss See cases [RCV000052654] Chr7:22955449..23155175 [GRCh38]
Chr7:22995068..23194794 [GRCh37]
Chr7:22961593..23161319 [NCBI36]
Chr7:7p15.3
uncertain significance
GRCh38/hg38 7p15.3(chr7:22680265-23369688)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053435]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053435]|See cases [RCV000053435] Chr7:22680265..23369688 [GRCh38]
Chr7:22719884..23409307 [GRCh37]
Chr7:22686409..23375832 [NCBI36]
Chr7:7p15.3
uncertain significance
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
GRCh38/hg38 7p15.3(chr7:22486980-23176403)x3 copy number gain See cases [RCV000134148] Chr7:22486980..23176403 [GRCh38]
Chr7:22526599..23216022 [GRCh37]
Chr7:22493124..23182547 [NCBI36]
Chr7:7p15.3
uncertain significance
GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1 copy number loss See cases [RCV000134333] Chr7:20210912..27849400 [GRCh38]
Chr7:20250535..27889019 [GRCh37]
Chr7:20217060..27855544 [NCBI36]
Chr7:7p21.1-15.2
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 7p21.1-14.3(chr7:20561456-32005143)x1 copy number loss See cases [RCV000136775] Chr7:20561456..32005143 [GRCh38]
Chr7:20601079..32044755 [GRCh37]
Chr7:20567604..32011280 [NCBI36]
Chr7:7p21.1-14.3
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 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 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 7p21.3-15.2(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
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 copy number loss See cases [RCV000240125] Chr7:22935369..32621975 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
NM_032581.4(FAM126A):c.*2108G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000264782] Chr7:22943481 [GRCh38]
Chr7:22983100 [GRCh37]
Chr7:7p15.3
uncertain significance
GRCh37/hg19 7p15.3(chr7:22766756-23053688)x1 copy number loss See cases [RCV000239915] Chr7:22766756..23053688 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*435_*436delinsTG indel Hypomyelination and Congenital Cataract [RCV000273924] Chr7:22945153..22945154 [GRCh38]
Chr7:22984772..22984773 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.1397C>T (p.Pro466Leu) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000528381] Chr7:22945758 [GRCh38]
Chr7:22985377 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*515A>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000270572] Chr7:22945074 [GRCh38]
Chr7:22984693 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.991+11C>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000275418] Chr7:22960245 [GRCh38]
Chr7:22999864 [GRCh37]
Chr7:7p15.3
likely benign|uncertain significance
NM_032581.4(FAM126A):c.*4221G>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV000276647] Chr7:22941368 [GRCh38]
Chr7:22980987 [GRCh37]
Chr7:7p15.3
likely benign|uncertain significance
NM_032581.4(FAM126A):c.*3680A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000283853] Chr7:22941909 [GRCh38]
Chr7:22981528 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.530+12G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000320866] Chr7:22976681 [GRCh38]
Chr7:23016300 [GRCh37]
Chr7:7p15.3
likely benign|uncertain significance
NM_032581.4(FAM126A):c.*3491A>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000343539] Chr7:22942098 [GRCh38]
Chr7:22981717 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*2904A>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000368920] Chr7:22942685 [GRCh38]
Chr7:22982304 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*4255A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000370945] Chr7:22941334 [GRCh38]
Chr7:22980953 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.281A>G (p.Asn94Ser) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000285964] Chr7:22978321 [GRCh38]
Chr7:23017940 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*77C>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000303760] Chr7:22945512 [GRCh38]
Chr7:22985131 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*858T>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000304314] Chr7:22944731 [GRCh38]
Chr7:22984350 [GRCh37]
Chr7:7p15.3
benign|likely benign
NM_032581.4(FAM126A):c.-186_-183del deletion Hypomyelination and Congenital Cataract [RCV000347370] Chr7:23014079..23014082 [GRCh38]
Chr7:23053698..23053701 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.626+5A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000317501] Chr7:22976205 [GRCh38]
Chr7:23015824 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*3753C>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000378256] Chr7:22941836 [GRCh38]
Chr7:22981455 [GRCh37]
Chr7:7p15.3
likely benign|uncertain significance
NM_032581.4(FAM126A):c.*2976G>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000401482] Chr7:22942613 [GRCh38]
Chr7:22982232 [GRCh37]
Chr7:7p15.3
benign|likely benign
NM_032581.4(FAM126A):c.*1969G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000325292] Chr7:22943620 [GRCh38]
Chr7:22983239 [GRCh37]
Chr7:7p15.3
benign|likely benign
NM_032581.4(FAM126A):c.*232T>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV000373547] Chr7:22945357 [GRCh38]
Chr7:22984976 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*3486_*3489del deletion Hypomyelination and Congenital Cataract [RCV000399406] Chr7:22942100..22942103 [GRCh38]
Chr7:22981719..22981722 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.1171G>C (p.Gly391Arg) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000272145]|not provided [RCV000498543] Chr7:22945984 [GRCh38]
Chr7:22985603 [GRCh37]
Chr7:7p15.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032581.4(FAM126A):c.1480G>A (p.Val494Ile) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000306247] Chr7:22945675 [GRCh38]
Chr7:22985294 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*3266C>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000289717] Chr7:22942323 [GRCh38]
Chr7:22981942 [GRCh37]
Chr7:7p15.3
benign|likely benign
NM_032581.4(FAM126A):c.*437G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000328043] Chr7:22945152 [GRCh38]
Chr7:22984771 [GRCh37]
Chr7:7p15.3
benign|likely benign
NM_032581.4(FAM126A):c.-111G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000290134] Chr7:23014007 [GRCh38]
Chr7:23053626 [GRCh37]
Chr7:7p15.3
likely benign|uncertain significance
NM_032581.4(FAM126A):c.*1812C>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000290194] Chr7:22943777 [GRCh38]
Chr7:22983396 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.356A>G (p.His119Arg) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000378083] Chr7:22977399 [GRCh38]
Chr7:23017018 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*435C>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000331632] Chr7:22945154 [GRCh38]
Chr7:22984773 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.*2459C>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000353668] Chr7:22943130 [GRCh38]
Chr7:22982749 [GRCh37]
Chr7:7p15.3
benign|likely benign
NM_032581.4(FAM126A):c.*2044A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000379131] Chr7:22943545 [GRCh38]
Chr7:22983164 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.930T>G (p.Ser310=) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000332807] Chr7:22960317 [GRCh38]
Chr7:22999936 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*1878T>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000382257] Chr7:22943711 [GRCh38]
Chr7:22983330 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.766G>C (p.Ala256Pro) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000260199] Chr7:22961300 [GRCh38]
Chr7:23000919 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*2379_*2380AT[1] microsatellite Hypomyelination and Congenital Cataract [RCV000261140] Chr7:22943207..22943208 [GRCh38]
Chr7:22982826..22982827 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.*1008G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000357874] Chr7:22944581 [GRCh38]
Chr7:22984200 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*1318A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000406825] Chr7:22944271 [GRCh38]
Chr7:22983890 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.*384A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000388447] Chr7:22945205 [GRCh38]
Chr7:22984824 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.*241T>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV000335061] Chr7:22945348 [GRCh38]
Chr7:22984967 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.*1354A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000335946] Chr7:22944235 [GRCh38]
Chr7:22983854 [GRCh37]
Chr7:7p15.3
benign|likely benign
NM_032581.4(FAM126A):c.*436T>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000384924] Chr7:22945153 [GRCh38]
Chr7:22984772 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.*1608A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000385752] Chr7:22943981 [GRCh38]
Chr7:22983600 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.*3001A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000346964] Chr7:22942588 [GRCh38]
Chr7:22982207 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.1515A>G (p.Gln505=) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000389924] Chr7:22945640 [GRCh38]
Chr7:22985259 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*372G>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV000296387] Chr7:22945217 [GRCh38]
Chr7:22984836 [GRCh37]
Chr7:7p15.3
likely benign|uncertain significance
NM_032581.4(FAM126A):c.*1428T>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV000297387] Chr7:22944161 [GRCh38]
Chr7:22983780 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*2661C>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000315359] Chr7:22942928 [GRCh38]
Chr7:22982547 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.*198T>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000281285] Chr7:22945391 [GRCh38]
Chr7:22985010 [GRCh37]
Chr7:7p15.3
benign|likely benign
NM_032581.4(FAM126A):c.1220G>A (p.Arg407Gln) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000364404] Chr7:22945935 [GRCh38]
Chr7:22985554 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.-202C>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000390418] Chr7:23014098 [GRCh38]
Chr7:23053717 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*2905T>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV000311868] Chr7:22942684 [GRCh38]
Chr7:22982303 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*4278_*4279insGT insertion Hypomyelination and Congenital Cataract [RCV000330372] Chr7:22941310..22941311 [GRCh38]
Chr7:22980929..22980930 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.*2198A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000318735] Chr7:22943391 [GRCh38]
Chr7:22983010 [GRCh37]
Chr7:7p15.3
likely benign|uncertain significance
NM_032581.4(FAM126A):c.1555T>C (p.Ser519Pro) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000342314] Chr7:22945600 [GRCh38]
Chr7:22985219 [GRCh37]
Chr7:7p15.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032581.4(FAM126A):c.*1506T>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000351086] Chr7:22944083 [GRCh38]
Chr7:22983702 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.*3804A>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV000319011] Chr7:22941785 [GRCh38]
Chr7:22981404 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.1067C>T (p.Ala356Val) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000367815] Chr7:22946088 [GRCh38]
Chr7:22985707 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.530+14A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000282207] Chr7:22976679 [GRCh38]
Chr7:23016298 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*3878C>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000282565] Chr7:22941711 [GRCh38]
Chr7:22981330 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.415-1G>A single nucleotide variant not provided [RCV000329293] Chr7:22976809 [GRCh38]
Chr7:23016428 [GRCh37]
Chr7:7p15.3
pathogenic
NM_032581.4(FAM126A):c.*4329del deletion Hypomyelination and Congenital Cataract [RCV000275314] Chr7:22941260 [GRCh38]
Chr7:22980879 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*1007T>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV000265436] Chr7:22944582 [GRCh38]
Chr7:22984201 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.1464A>G (p.Glu488=) single nucleotide variant not provided [RCV000488025] Chr7:22945691 [GRCh38]
Chr7:22985310 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.*1481G>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV000399537] Chr7:22944108 [GRCh38]
Chr7:22983727 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.-29+3G>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV000399450] Chr7:23013922 [GRCh38]
Chr7:23053541 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*94G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000401868] Chr7:22945495 [GRCh38]
Chr7:22985114 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*1796A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000347463] Chr7:22943793 [GRCh38]
Chr7:22983412 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*1596A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000293808] Chr7:22943993 [GRCh38]
Chr7:22983612 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*4219T>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000317775] Chr7:22941370 [GRCh38]
Chr7:22980989 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*2062G>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000322208] Chr7:22943527 [GRCh38]
Chr7:22983146 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.855A>G (p.Ser285=) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000389817] Chr7:22960392 [GRCh38]
Chr7:23000011 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*180G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000338765] Chr7:22945409 [GRCh38]
Chr7:22985028 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*4043A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000372312] Chr7:22941546 [GRCh38]
Chr7:22981165 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*2001T>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000287032] Chr7:22943588 [GRCh38]
Chr7:22983207 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*2822A>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000391748] Chr7:22942767 [GRCh38]
Chr7:22982386 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.1167T>C (p.Thr389=) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000310764] Chr7:22945988 [GRCh38]
Chr7:22985607 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*2111G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV000357225] Chr7:22943478 [GRCh38]
Chr7:22983097 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*1255A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV000300867] Chr7:22944334 [GRCh38]
Chr7:22983953 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.-29+4A>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV000343156] Chr7:23013921 [GRCh38]
Chr7:23053540 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*829T>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV000361309] Chr7:22944760 [GRCh38]
Chr7:22984379 [GRCh37]
Chr7:7p15.3
uncertain significance
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
GRCh37/hg19 7p15.3(chr7:22574536-23357770)x1 copy number loss See cases [RCV000447119] Chr7:22574536..23357770 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.302T>C (p.Ile101Thr) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000764705]|not provided [RCV000441549] Chr7:22978300 [GRCh38]
Chr7:23017919 [GRCh37]
Chr7:7p15.3
uncertain significance
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
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_032581.4(FAM126A):c.1201T>C (p.Cys401Arg) single nucleotide variant Hypomyelination and Congenital Cataract [RCV001161651]|not provided [RCV000497826] Chr7:22945954 [GRCh38]
Chr7:22985573 [GRCh37]
Chr7:7p15.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032581.4(FAM126A):c.1492A>G (p.Thr498Ala) single nucleotide variant Hypomyelination and Congenital Cataract [RCV001086502]|not provided [RCV000493583] Chr7:22945663 [GRCh38]
Chr7:22985282 [GRCh37]
Chr7:7p15.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032581.4(FAM126A):c.229C>T (p.Gln77Ter) single nucleotide variant not provided [RCV000493083] Chr7:22978373 [GRCh38]
Chr7:23017992 [GRCh37]
Chr7:7p15.3
likely pathogenic
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_032581.4(FAM126A):c.1339G>A (p.Ala447Thr) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000644618] Chr7:22945816 [GRCh38]
Chr7:22985435 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.1184A>G (p.Glu395Gly) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000644617] Chr7:22945971 [GRCh38]
Chr7:22985590 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.834T>G (p.Val278=) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000528705] Chr7:22960413 [GRCh38]
Chr7:23000032 [GRCh37]
Chr7:7p15.3
benign
GRCh37/hg19 7p15.3(chr7:22721417-23193605)x3 copy number gain not provided [RCV000682848] Chr7:22721417..23193605 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.932G>A (p.Arg311Gln) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000695418] Chr7:22960315 [GRCh38]
Chr7:22999934 [GRCh37]
Chr7:7p15.3
uncertain significance
NC_000007.14:g.(?_22964395)_(22991131_?)del deletion Hypomyelination and Congenital Cataract [RCV000707885] Chr7:22964395..22991131 [GRCh38]
Chr7:23004014..23030750 [GRCh37]
Chr7:7p15.3
uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
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
NM_032581.4(FAM126A):c.*3575A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV001164930] Chr7:22942014 [GRCh38]
Chr7:22981633 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*314T>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV001165168] Chr7:22945275 [GRCh38]
Chr7:22984894 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.972T>G (p.Gly324=) single nucleotide variant Hypomyelination and Congenital Cataract [RCV001163179]|not provided [RCV000877307] Chr7:22960275 [GRCh38]
Chr7:22999894 [GRCh37]
Chr7:7p15.3
benign|uncertain significance
NM_032581.4(FAM126A):c.636T>C (p.Val212=) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000865134] Chr7:22964522 [GRCh38]
Chr7:23004141 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.1221A>G (p.Arg407=) single nucleotide variant not provided [RCV000970589] Chr7:22945934 [GRCh38]
Chr7:22985553 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.582C>T (p.Tyr194=) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000945737] Chr7:22976254 [GRCh38]
Chr7:23015873 [GRCh37]
Chr7:7p15.3
benign|conflicting interpretations of pathogenicity
NM_032581.4(FAM126A):c.1519G>C (p.Gly507Arg) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000983884] Chr7:22945636 [GRCh38]
Chr7:22985255 [GRCh37]
Chr7:7p15.3
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_032581.4(FAM126A):c.334-4A>G single nucleotide variant not provided [RCV000896006] Chr7:22977425 [GRCh38]
Chr7:23017044 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.650G>A (p.Arg217Gln) single nucleotide variant Hypomyelination and Congenital Cataract [RCV001165273]|not provided [RCV000873947] Chr7:22964508 [GRCh38]
Chr7:23004127 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.367T>C (p.Leu123=) single nucleotide variant not provided [RCV000976769] Chr7:22977388 [GRCh38]
Chr7:23017007 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.1504A>G (p.Met502Val) single nucleotide variant not provided [RCV000998777] Chr7:22945651 [GRCh38]
Chr7:22985270 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.1064C>T (p.Ala355Val) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000871136] Chr7:22946091 [GRCh38]
Chr7:22985710 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.100_101del (p.Lys34fs) deletion Hypomyelination and Congenital Cataract [RCV000785923] Chr7:22983996..22983997 [GRCh38]
Chr7:23023615..23023616 [GRCh37]
Chr7:7p15.3
likely pathogenic
NM_032581.4(FAM126A):c.*3739A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV001164929] Chr7:22941850 [GRCh38]
Chr7:22981469 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*3798A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV001164928] Chr7:22941791 [GRCh38]
Chr7:22981410 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*99G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV001165169] Chr7:22945490 [GRCh38]
Chr7:22985109 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*2060A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV001162967] Chr7:22943529 [GRCh38]
Chr7:22983148 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*583A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV001163076] Chr7:22945006 [GRCh38]
Chr7:22984625 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.*416G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV001163079] Chr7:22945173 [GRCh38]
Chr7:22984792 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.992-11T>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV001163178] Chr7:22946174 [GRCh38]
Chr7:22985793 [GRCh37]
Chr7:7p15.3
benign
NM_032581.4(FAM126A):c.*3278G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV001164931] Chr7:22942311 [GRCh38]
Chr7:22981930 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*3046G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV001160012] Chr7:22942543 [GRCh38]
Chr7:22982162 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*2878T>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV001160013] Chr7:22942711 [GRCh38]
Chr7:22982330 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*798C>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV001161547] Chr7:22944791 [GRCh38]
Chr7:22984410 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.1148G>A (p.Arg383Gln) single nucleotide variant Hypomyelination and Congenital Cataract [RCV001161652] Chr7:22946007 [GRCh38]
Chr7:22985626 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.379A>T (p.Ile127Phe) single nucleotide variant Hypomyelination and Congenital Cataract [RCV001158556] Chr7:22977376 [GRCh38]
Chr7:23016995 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.154-7C>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV001158557] Chr7:22978455 [GRCh38]
Chr7:23018074 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.-89C>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV001158558] Chr7:23013985 [GRCh38]
Chr7:23053604 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.594T>A (p.Val198=) single nucleotide variant not provided [RCV000917301] Chr7:22976242 [GRCh38]
Chr7:23015861 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.1044C>T (p.Asp348=) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000908024] Chr7:22946111 [GRCh38]
Chr7:22985730 [GRCh37]
Chr7:7p15.3
likely benign|conflicting interpretations of pathogenicity
NM_032581.4(FAM126A):c.191A>G (p.Tyr64Cys) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000870519]|not provided [RCV001171984] Chr7:22978411 [GRCh38]
Chr7:23018030 [GRCh37]
Chr7:7p15.3
benign|uncertain significance
NM_032581.4(FAM126A):c.19G>C (p.Gly7Arg) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000981652] Chr7:22991093 [GRCh38]
Chr7:23030712 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.1415G>A (p.Cys472Tyr) single nucleotide variant Hypomyelination and Congenital Cataract [RCV000864309] Chr7:22945740 [GRCh38]
Chr7:22985359 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.1479C>T (p.Tyr493=) single nucleotide variant Hypomyelination and Congenital Cataract [RCV001158449] Chr7:22945676 [GRCh38]
Chr7:22985295 [GRCh37]
Chr7:7p15.3
uncertain significance
NC_000007.14:g.23014152G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV001161765] Chr7:23014152 [GRCh38]
Chr7:23053771 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*506A>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV001163077] Chr7:22945083 [GRCh38]
Chr7:22984702 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*452G>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV001163078] Chr7:22945137 [GRCh38]
Chr7:22984756 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*1750G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV001165051] Chr7:22943839 [GRCh38]
Chr7:22983458 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.500C>T (p.Pro167Leu) single nucleotide variant Hypomyelination and Congenital Cataract [RCV001165274] Chr7:22976723 [GRCh38]
Chr7:23016342 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.1086G>A (p.Ser362=) single nucleotide variant not provided [RCV000912177] Chr7:22946069 [GRCh38]
Chr7:22985688 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.*2286G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV001161431] Chr7:22943303 [GRCh38]
Chr7:22982922 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*2081T>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV001161432] Chr7:22943508 [GRCh38]
Chr7:22983127 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*3167T>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV001160010] Chr7:22942422 [GRCh38]
Chr7:22982041 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*940A>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV001161546] Chr7:22944649 [GRCh38]
Chr7:22984268 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*646T>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV001161548] Chr7:22944943 [GRCh38]
Chr7:22984562 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*622G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV001161549] Chr7:22944967 [GRCh38]
Chr7:22984586 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.1238C>T (p.Ala413Val) single nucleotide variant Hypomyelination and Congenital Cataract [RCV001161650] Chr7:22945917 [GRCh38]
Chr7:22985536 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.1135A>G (p.Lys379Glu) single nucleotide variant Hypomyelination and Congenital Cataract [RCV001161653] Chr7:22946020 [GRCh38]
Chr7:22985639 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*1773C>T single nucleotide variant Hypomyelination and Congenital Cataract [RCV001162968] Chr7:22943816 [GRCh38]
Chr7:22983435 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*1059G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV001158343] Chr7:22944530 [GRCh38]
Chr7:22984149 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*1382G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV001158340] Chr7:22944207 [GRCh38]
Chr7:22983826 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*1358C>G single nucleotide variant Hypomyelination and Congenital Cataract [RCV001158341] Chr7:22944231 [GRCh38]
Chr7:22983850 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*1319T>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV001158342] Chr7:22944270 [GRCh38]
Chr7:22983889 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.968G>A (p.Arg323Lys) single nucleotide variant Hypomyelination and Congenital Cataract [RCV001163180] Chr7:22960279 [GRCh38]
Chr7:22999898 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.831+10T>C single nucleotide variant Hypomyelination and Congenital Cataract [RCV001163181] Chr7:22961225 [GRCh38]
Chr7:23000844 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*1443G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV001165052] Chr7:22944146 [GRCh38]
Chr7:22983765 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*66G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV001158448] Chr7:22945523 [GRCh38]
Chr7:22985142 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.*3106G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV001160011] Chr7:22942483 [GRCh38]
Chr7:22982102 [GRCh37]
Chr7:7p15.3
likely benign
NM_032581.4(FAM126A):c.*2654G>A single nucleotide variant Hypomyelination and Congenital Cataract [RCV001161430] Chr7:22942935 [GRCh38]
Chr7:22982554 [GRCh37]
Chr7:7p15.3
uncertain significance
NM_032581.4(FAM126A):c.74C>T (p.Pro25Leu) single nucleotide variant Hypomyelination and Congenital Cataract [RCV001062627] Chr7:22984023 [GRCh38]
Chr7:23023642 [GRCh37]
Chr7:7p15.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24587 AgrOrtholog
COSMIC FAM126A COSMIC
Ensembl Genes ENSG00000122591 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000386246 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386624 UniProtKB/TrEMBL
  ENSP00000397168 UniProtKB/TrEMBL
  ENSP00000403396 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000505161 ENTREZGENE
Ensembl Transcript ENST00000409763 UniProtKB/TrEMBL
  ENST00000409923 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000432176 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000440481 UniProtKB/TrEMBL
  ENST00000681766 ENTREZGENE
GTEx ENSG00000122591 GTEx
HGNC ID HGNC:24587 ENTREZGENE
Human Proteome Map FAM126A Human Proteome Map
InterPro Hyccin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84668 UniProtKB/Swiss-Prot
NCBI Gene 84668 ENTREZGENE
OMIM 610531 OMIM
  610532 OMIM
PANTHER PTHR31220 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hyccin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162385852 PharmGKB
UniProt A0A0S2Z6M9_HUMAN UniProtKB/TrEMBL
  B8ZZA2_HUMAN UniProtKB/TrEMBL
  H7C0W7_HUMAN UniProtKB/TrEMBL
  HYCCI_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A024RA06 UniProtKB/Swiss-Prot
  A4D145 UniProtKB/Swiss-Prot
  B8ZZJ1 UniProtKB/Swiss-Prot
  Q6N010 UniProtKB/Swiss-Prot
  Q75MR4 UniProtKB/Swiss-Prot
  Q7LDZ4 UniProtKB/Swiss-Prot
  Q96MX1 UniProtKB/Swiss-Prot
  Q96NQ6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM126A  family with sequence similarity 126 member A    family with sequence similarity 126, member A  Symbol and/or name change 5135510 APPROVED
2011-09-01 FAM126A  family with sequence similarity 126, member A  FAM126A  family with sequence similarity 126, member A  Symbol and/or name change 5135510 APPROVED