SPTLC2 (serine palmitoyltransferase long chain base subunit 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: SPTLC2 (serine palmitoyltransferase long chain base subunit 2) Homo sapiens
Analyze
Symbol: SPTLC2
Name: serine palmitoyltransferase long chain base subunit 2
RGD ID: 1354205
HGNC Page HGNC
Description: Exhibits serine C-palmitoyltransferase activity. Involved in ceramide biosynthetic process and positive regulation of lipophagy. Localizes to serine C-palmitoyltransferase complex. Implicated in hereditary sensory and autonomic neuropathy type 1C.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: hLCB2a; HSN1C; KIAA0526; LCB 2; LCB2; LCB2A; long chain base biosynthesis protein 2; long chain base biosynthesis protein 2a; NSAN1C; serine palmitoyltransferase 2; serine palmitoyltransferase, long chain base subunit 2; serine palmitoyltransferase, subunit II; serine-palmitoyl-CoA transferase 2; SPT 2; SPT2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AL009178.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1477,505,997 - 77,616,637 (-)EnsemblGRCh38hg38GRCh38
GRCh381477,505,997 - 77,616,663 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371477,972,340 - 78,082,980 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361477,043,023 - 77,152,863 (-)NCBINCBI36hg18NCBI36
Build 341477,043,024 - 77,152,863NCBI
Celera1458,011,851 - 58,121,636 (-)NCBI
Cytogenetic Map14q24.3NCBI
HuRef1458,138,337 - 58,249,054 (-)NCBIHuRef
CHM1_11477,911,814 - 78,022,586 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
1-benzylpiperazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-acetamidofluorene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',5-triiodo-L-thyronine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
8'-apo-beta,psi-caroten-8'-al  (EXP)
acetamide  (ISO)
aflatoxin B1  (ISO)
amphetamine  (ISO)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
beta-carotene  (EXP)
butanal  (EXP)
calcitriol  (EXP)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
cyclosporin A  (EXP,ISO)
deoxynivalenol  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
divanadium pentaoxide  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
genistein  (ISO)
gentamycin  (ISO)
GW 4064  (ISO)
isoprenaline  (ISO)
L-methionine  (ISO)
lithocholic acid  (ISO)
methapyrilene  (EXP)
methotrexate  (ISO)
nickel atom  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
pentanal  (EXP)
perfluorooctanoic acid  (EXP)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
rac-lactic acid  (EXP)
SB 431542  (EXP)
sodium fluoride  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
triclocarban  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7506601   PMID:8889549   PMID:8921873   PMID:9363775   PMID:9628581   PMID:10722674   PMID:10737800   PMID:12207934   PMID:12445191   PMID:12477932   PMID:12508121   PMID:15489334  
PMID:16147992   PMID:17081983   PMID:17194770   PMID:17331073   PMID:19416851   PMID:20877624   PMID:20920666   PMID:21873635   PMID:22810586   PMID:23025307   PMID:23658386   PMID:24175284  
PMID:25332431   PMID:25356737   PMID:25476789   PMID:25691431   PMID:25754235   PMID:25921289   PMID:26186194   PMID:26472760   PMID:26573920   PMID:26618866   PMID:27432908   PMID:28380382  
PMID:28514442   PMID:28675297   PMID:28692057   PMID:29117863   PMID:29467282   PMID:29507755   PMID:30619736   PMID:30833792   PMID:30952607   PMID:30955194   PMID:31056421   PMID:31073040  
PMID:31091453   PMID:31509666   PMID:31900314   PMID:32149426   PMID:32552912   PMID:32694731   PMID:33001583   PMID:33031402   PMID:33060197   PMID:33558762   PMID:33845483  


Genomics

Comparative Map Data
SPTLC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1477,505,997 - 77,616,637 (-)EnsemblGRCh38hg38GRCh38
GRCh381477,505,997 - 77,616,663 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371477,972,340 - 78,082,980 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361477,043,023 - 77,152,863 (-)NCBINCBI36hg18NCBI36
Build 341477,043,024 - 77,152,863NCBI
Celera1458,011,851 - 58,121,636 (-)NCBI
Cytogenetic Map14q24.3NCBI
HuRef1458,138,337 - 58,249,054 (-)NCBIHuRef
CHM1_11477,911,814 - 78,022,586 (-)NCBICHM1_1
Sptlc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391287,351,832 - 87,435,129 (-)NCBIGRCm39mm39
GRCm39 Ensembl1287,351,832 - 87,435,129 (-)Ensembl
GRCm381287,305,058 - 87,388,355 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1287,305,058 - 87,388,355 (-)EnsemblGRCm38mm10GRCm38
MGSCv371288,648,839 - 88,729,180 (-)NCBIGRCm37mm9NCBIm37
MGSCv361288,196,992 - 88,277,333 (-)NCBImm8
Celera1288,772,417 - 88,852,773 (-)NCBICelera
Cytogenetic Map12D2NCBI
Sptlc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.26106,948,681 - 107,031,584 (-)NCBI
Rnor_6.0 Ensembl6111,339,136 - 111,417,954 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.06111,334,408 - 111,417,960 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.06120,616,251 - 120,699,243 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46111,546,037 - 111,622,959 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.16111,245,978 - 111,626,585 (-)NCBI
Celera6104,771,427 - 104,849,755 (-)NCBICelera
Cytogenetic Map6q31NCBI
Sptlc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554381,385,431 - 1,491,578 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554381,385,431 - 1,491,534 (-)NCBIChiLan1.0ChiLan1.0
SPTLC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11477,266,545 - 77,370,663 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1477,266,545 - 77,370,663 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01458,066,123 - 58,170,472 (-)NCBIMhudiblu_PPA_v0panPan3
SPTLC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1850,291,797 - 50,401,202 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl850,271,010 - 50,401,313 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha849,979,477 - 50,088,850 (-)NCBI
ROS_Cfam_1.0850,525,698 - 50,635,391 (-)NCBI
UMICH_Zoey_3.1850,188,135 - 50,297,514 (-)NCBI
UNSW_CanFamBas_1.0850,211,301 - 50,320,641 (-)NCBI
UU_Cfam_GSD_1.0850,609,185 - 50,719,362 (-)NCBI
LOC101967158
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864025,664,744 - 25,778,794 (+)NCBI
SpeTri2.0NW_0049364886,313,189 - 6,404,425 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SPTLC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl7100,544,478 - 100,638,907 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.17100,545,360 - 100,638,973 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27106,672,604 - 106,730,716 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SPTLC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12454,769,072 - 54,876,963 (-)NCBI
Vero_WHO_p1.0NW_02366605342,955,305 - 43,064,586 (-)NCBI
Sptlc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473424,281,482 - 24,400,870 (+)NCBI

Position Markers
D14S59  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,072,690 - 78,072,790UniSTSGRCh37
Build 361477,142,443 - 77,142,543RGDNCBI36
Celera1458,111,217 - 58,111,317RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,238,635 - 58,238,735UniSTS
Marshfield Genetic Map1487.36RGD
Marshfield Genetic Map1487.36UniSTS
deCODE Assembly Map1477.66UniSTS
Whitehead-YAC Contig Map14 UniSTS
G35466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,013,573 - 78,013,773UniSTSGRCh37
Build 361477,083,326 - 77,083,526RGDNCBI36
Celera1458,052,131 - 58,052,331RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,179,540 - 58,179,740UniSTS
SHGC-30760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,034,235 - 78,034,336UniSTSGRCh37
Build 361477,103,988 - 77,104,089RGDNCBI36
Celera1458,072,761 - 58,072,862RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,200,166 - 58,200,267UniSTS
GeneMap99-GB4 RH Map14208.01UniSTS
Whitehead-RH Map14277.7UniSTS
NCBI RH Map14906.7UniSTS
SHGC-35537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,001,965 - 78,002,184UniSTSGRCh37
Build 361477,071,718 - 77,071,937RGDNCBI36
Celera1458,040,522 - 58,040,741RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,167,933 - 58,168,152UniSTS
Stanford-G3 RH Map142914.0UniSTS
GeneMap99-GB4 RH Map14208.53UniSTS
Whitehead-RH Map14276.9UniSTS
NCBI RH Map14866.1UniSTS
GeneMap99-G3 RH Map142962.0UniSTS
SHGC-132736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,064,506 - 78,064,627UniSTSGRCh37
Build 361477,134,259 - 77,134,380RGDNCBI36
Celera1458,103,030 - 58,103,151RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,230,448 - 58,230,569UniSTS
D14S929  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,064,511 - 78,064,640UniSTSGRCh37
Build 361477,134,264 - 77,134,393RGDNCBI36
Celera1458,103,035 - 58,103,164RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,230,453 - 58,230,582UniSTS
Stanford-G3 RH Map142923.0UniSTS
NCBI RH Map14864.2UniSTS
RH17530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,012,944 - 78,013,074UniSTSGRCh37
Build 361477,082,697 - 77,082,827RGDNCBI36
Celera1458,051,502 - 58,051,632RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,178,911 - 58,179,041UniSTS
GeneMap99-GB4 RH Map14208.94UniSTS
RH11203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371477,972,459 - 77,972,624UniSTSGRCh37
Build 361477,042,212 - 77,042,377RGDNCBI36
Celera1458,011,040 - 58,011,205RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,138,456 - 58,138,621UniSTS
GeneMap99-GB4 RH Map14208.53UniSTS
D14S843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371477,972,347 - 77,972,627UniSTSGRCh37
Build 361477,042,100 - 77,042,380RGDNCBI36
Celera1458,010,928 - 58,011,208RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,138,344 - 58,138,624UniSTS
GeneMap99-GB4 RH Map14208.53UniSTS
Whitehead-RH Map14276.7UniSTS
Whitehead-YAC Contig Map14 UniSTS
G35447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,020,979 - 78,021,207UniSTSGRCh37
Build 361477,090,732 - 77,090,960RGDNCBI36
Celera1458,059,534 - 58,059,762RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,186,952 - 58,187,180UniSTS
G35534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,006,667 - 78,006,748UniSTSGRCh37
Build 361477,076,420 - 77,076,501RGDNCBI36
Celera1458,045,224 - 58,045,305RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,172,633 - 58,172,714UniSTS
G35451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,031,088 - 78,031,225UniSTSGRCh37
Build 361477,100,841 - 77,100,978RGDNCBI36
Celera1458,069,614 - 58,069,751RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,197,033 - 58,197,157UniSTS
G36021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,057,197 - 78,057,304UniSTSGRCh37
Build 361477,126,950 - 77,127,057RGDNCBI36
Celera1458,095,727 - 58,095,834RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,223,119 - 58,223,226UniSTS
G35529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,064,857 - 78,064,946UniSTSGRCh37
Build 361477,134,610 - 77,134,699RGDNCBI36
Celera1458,103,381 - 58,103,470RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,230,799 - 58,230,888UniSTS
RH70479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371478,001,980 - 78,002,100UniSTSGRCh37
Build 361477,071,733 - 77,071,853RGDNCBI36
Celera1458,040,537 - 58,040,657RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,167,948 - 58,168,068UniSTS
GeneMap99-GB4 RH Map14203.09UniSTS
A002Y12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371477,972,392 - 77,972,506UniSTSGRCh37
Build 361477,042,145 - 77,042,259RGDNCBI36
Celera1458,010,973 - 58,011,087RGD
Cytogenetic Map14q24.3UniSTS
HuRef1458,138,389 - 58,138,503UniSTS
GeneMap99-GB4 RH Map14208.53UniSTS
L17809  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map9q34.13UniSTS
GDB:312794  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q24.3UniSTS
L17877  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map9q21.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map17q25.3UniSTS
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
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
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:3182
Count of miRNA genes:1264
Interacting mature miRNAs:1592
Transcripts:ENST00000216484, ENST00000554365, ENST00000554901, ENST00000556264, ENST00000556607, ENST00000557566
Prediction methods:Miranda, Rnahybrid
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 1400 1092 1121 226 1683 71 2773 416 2046 343 926 1503 167 1195 1340 2
Low 1036 1893 603 396 268 393 1582 1780 1683 75 524 106 6 1 9 1448 2
Below cutoff 2 3 2 1 1 1 4 1 9 4 2 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000216484   ⟹   ENSP00000216484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,505,997 - 77,616,773 (-)Ensembl
RefSeq Acc Id: ENST00000554365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,552,120 - 77,557,321 (-)Ensembl
RefSeq Acc Id: ENST00000554901   ⟹   ENSP00000452189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,535,600 - 77,597,321 (-)Ensembl
RefSeq Acc Id: ENST00000556264
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,552,129 - 77,554,926 (-)Ensembl
RefSeq Acc Id: ENST00000556607   ⟹   ENSP00000451029
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,512,341 - 77,552,192 (-)Ensembl
RefSeq Acc Id: ENST00000557566
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,578,766 - 77,597,351 (-)Ensembl
RefSeq Acc Id: NM_004863   ⟹   NP_004854
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,505,997 - 77,616,637 (-)NCBI
GRCh371477,972,340 - 78,083,110 (-)ENTREZGENE
Build 361477,043,023 - 77,152,863 (-)NCBI Archive
HuRef1458,138,337 - 58,249,054 (-)ENTREZGENE
CHM1_11477,911,814 - 78,022,586 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537384   ⟹   XP_011535686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,535,600 - 77,616,663 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004854   ⟸   NM_004863
- UniProtKB: O15270 (UniProtKB/Swiss-Prot),   A0A024R6H1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535686   ⟸   XM_011537384
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000451029   ⟸   ENST00000556607
RefSeq Acc Id: ENSP00000216484   ⟸   ENST00000216484
RefSeq Acc Id: ENSP00000452189   ⟸   ENST00000554901
Protein Domains
Aminotran_1_2

Promoters
RGD ID:6791896
Promoter ID:HG_KWN:19870
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:NM_004863
Position:
Human AssemblyChrPosition (strand)Source
Build 361477,152,666 - 77,153,202 (-)MPROMDB
RGD ID:7228253
Promoter ID:EPDNEW_H19872
Type:initiation region
Name:SPTLC2_3
Description:serine palmitoyltransferase long chain base subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19873  EPDNEW_H19874  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,597,282 - 77,597,342EPDNEW
RGD ID:7228255
Promoter ID:EPDNEW_H19873
Type:initiation region
Name:SPTLC2_2
Description:serine palmitoyltransferase long chain base subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19872  EPDNEW_H19874  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,616,637 - 77,616,697EPDNEW
RGD ID:7228257
Promoter ID:EPDNEW_H19874
Type:initiation region
Name:SPTLC2_1
Description:serine palmitoyltransferase long chain base subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19872  EPDNEW_H19873  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,616,781 - 77,616,841EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004863.3(SPTLC2):c.1145G>T (p.Gly382Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648366]|NEUROPATHY, HEREDITARY SENSORY, TYPE IC [RCV000005064]|not provided [RCV001268055] Chr14:77555331 [GRCh38]
Chr14:78021674 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_004863.3(SPTLC2):c.1075G>A (p.Val359Met) single nucleotide variant NEUROPATHY, HEREDITARY SENSORY, TYPE IC [RCV000005065] Chr14:77555401 [GRCh38]
Chr14:78021744 [GRCh37]
Chr14:14q24.3
pathogenic
NM_004863.3(SPTLC2):c.1510A>T (p.Ile504Phe) AND NEUROPATHY, HEREDITARY SENSORY single nucleotide variant NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE [RCV000005066] Chr14:77518097 [GRCh38]
Chr14:77984440 [GRCh37]
Chr14:14q24.3
pathogenic
NM_004863.3(SPTLC2):c.460C>A (p.His154Asn) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000543082] Chr14:77578977 [GRCh38]
Chr14:78045320 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.649G>T (p.Glu217Ter) single nucleotide variant not provided [RCV000522515] Chr14:77570491 [GRCh38]
Chr14:78036834 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.900G>A (p.Gln300=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000525945] Chr14:77557097 [GRCh38]
Chr14:78023440 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.547C>T (p.Arg183Trp) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000576203] Chr14:77576851 [GRCh38]
Chr14:78043194 [GRCh37]
Chr14:14q24.3
pathogenic
NM_004863.3(SPTLC2):c.255A>G (p.Gly85=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000576248] Chr14:77597258 [GRCh38]
Chr14:78063601 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1 copy number loss See cases [RCV000051548] Chr14:73877072..78042422 [GRCh38]
Chr14:74343775..78508765 [GRCh37]
Chr14:73413528..77578518 [NCBI36]
Chr14:14q24.3
pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1 copy number loss See cases [RCV000051549] Chr14:75489052..79610332 [GRCh38]
Chr14:75955395..80076675 [GRCh37]
Chr14:75025148..79146428 [NCBI36]
Chr14:14q24.3-31.1
pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2
pathogenic
NM_004863.3(SPTLC2):c.538G>C (p.Gly180Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000576278] Chr14:77576860 [GRCh38]
Chr14:78043203 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1543G>A (p.Ala515Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001285678] Chr14:77518064 [GRCh38]
Chr14:77984407 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 copy number loss See cases [RCV000134154] Chr14:69562099..81975384 [GRCh38]
Chr14:70028816..82441728 [GRCh37]
Chr14:69098569..81511481 [NCBI36]
Chr14:14q24.1-31.1
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1 copy number loss See cases [RCV000137421] Chr14:77193005..80476132 [GRCh38]
Chr14:77659348..80942475 [GRCh37]
Chr14:76729101..80012228 [NCBI36]
Chr14:14q24.3-31.1
likely pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1 copy number loss See cases [RCV000143265] Chr14:73343213..78835059 [GRCh38]
Chr14:73809921..79301402 [GRCh37]
Chr14:72879674..78371155 [NCBI36]
Chr14:14q24.3-31.1
pathogenic|likely pathogenic
NM_004863.3(SPTLC2):c.851-5T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000383740]|not provided [RCV000726053]|not specified [RCV000364182] Chr14:77557151 [GRCh38]
Chr14:78023494 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004863.3(SPTLC2):c.544G>C (p.Ala182Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000206999] Chr14:77576854 [GRCh38]
Chr14:78043197 [GRCh37]
Chr14:14q24.3
pathogenic
NM_004863.3(SPTLC2):c.701C>T (p.Ala234Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001061576]|not provided [RCV000756721] Chr14:77570439 [GRCh38]
Chr14:78036782 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1304G>T (p.Gly435Val) single nucleotide variant not provided [RCV000235701] Chr14:77521581 [GRCh38]
Chr14:77987924 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.768T>G (p.Ile256Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000509262]|not provided [RCV000236165] Chr14:77562478 [GRCh38]
Chr14:78028821 [GRCh37]
Chr14:14q24.3
uncertain significance|not provided
NM_004863.3(SPTLC2):c.508G>C (p.Val170Leu) single nucleotide variant not provided [RCV000236326] Chr14:77576890 [GRCh38]
Chr14:78043233 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.122C>T (p.Ala41Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000545059] Chr14:77616458 [GRCh38]
Chr14:78082801 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1172A>G (p.Lys391Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000545066] Chr14:77555304 [GRCh38]
Chr14:78021647 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_004863.3(SPTLC2):c.*3882_*3884delGTT microsatellite Hereditary sensory and autonomic neuropathy type IC [RCV000300006] Chr14:77508400..77508402 [GRCh38]
Chr14:77974743..77974745 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.*2338G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000368283] Chr14:77509946 [GRCh38]
Chr14:77976289 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*2794C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000302314] Chr14:77509490 [GRCh38]
Chr14:77975833 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_004863.3(SPTLC2):c.*3612T>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000268443] Chr14:77508672 [GRCh38]
Chr14:77975015 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*1193G>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000370996] Chr14:77511091 [GRCh38]
Chr14:77977434 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_004863.3(SPTLC2):c.*4431G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000284292] Chr14:77507853 [GRCh38]
Chr14:77974196 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*1457C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000347492] Chr14:77510827 [GRCh38]
Chr14:77977170 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.620G>T (p.Arg207Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000397642] Chr14:77576778 [GRCh38]
Chr14:78043121 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.162A>C (p.Leu54=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000398828]|not specified [RCV000425069] Chr14:77597351 [GRCh38]
Chr14:78063694 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_004863.3(SPTLC2):c.1449A>T (p.Gly483=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000268150]|not specified [RCV000427934] Chr14:77518158 [GRCh38]
Chr14:77984501 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_004863.3(SPTLC2):c.*1729G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000286718] Chr14:77510555 [GRCh38]
Chr14:77976898 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.-30G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000305584] Chr14:77616609 [GRCh38]
Chr14:78082952 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.-42A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000306762] Chr14:77616621 [GRCh38]
Chr14:78082964 [GRCh37]
Chr14:14q24.3
benign|uncertain significance
NM_004863.3(SPTLC2):c.*397G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000349411] Chr14:77511887 [GRCh38]
Chr14:77978230 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.1239T>C (p.Pro413=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000269483]|not provided [RCV000833360] Chr14:77552160 [GRCh38]
Chr14:78018503 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*4131G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000287825] Chr14:77508153 [GRCh38]
Chr14:77974496 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*523C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000289845] Chr14:77511761 [GRCh38]
Chr14:77978104 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*695T>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000289610] Chr14:77511589 [GRCh38]
Chr14:77977932 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_004863.3(SPTLC2):c.1128G>A (p.Thr376=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000329251] Chr14:77555348 [GRCh38]
Chr14:78021691 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*697C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000379340] Chr14:77511587 [GRCh38]
Chr14:77977930 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_004863.3(SPTLC2):c.*5531A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000401382] Chr14:77506753 [GRCh38]
Chr14:77973096 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*5395C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000290551] Chr14:77506889 [GRCh38]
Chr14:77973232 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*2645C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000272926] Chr14:77509639 [GRCh38]
Chr14:77975982 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.763C>T (p.Leu255=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000333428]|not provided [RCV000859578] Chr14:77562483 [GRCh38]
Chr14:78028826 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004863.3(SPTLC2):c.*1153T>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000276327] Chr14:77511131 [GRCh38]
Chr14:77977474 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.786T>C (p.Asn262=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000294134]|not specified [RCV000517490] Chr14:77562460 [GRCh38]
Chr14:78028803 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*3034C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000295602] Chr14:77509250 [GRCh38]
Chr14:77975593 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*1014C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000263587] Chr14:77511270 [GRCh38]
Chr14:77977613 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*2699C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000362917] Chr14:77509585 [GRCh38]
Chr14:77975928 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*2186A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000260829] Chr14:77510098 [GRCh38]
Chr14:77976441 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*4039T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000296472] Chr14:77508245 [GRCh38]
Chr14:77974588 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*288C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000296812] Chr14:77511996 [GRCh38]
Chr14:77978339 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*4645A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000316158] Chr14:77507639 [GRCh38]
Chr14:77973982 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.407G>A (p.Arg136Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000340141] Chr14:77579030 [GRCh38]
Chr14:78045373 [GRCh37]
Chr14:14q24.3
benign|uncertain significance
NM_004863.3(SPTLC2):c.1247T>C (p.Val416Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000363840] Chr14:77552152 [GRCh38]
Chr14:78018495 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*6253T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000278828] Chr14:77506031 [GRCh38]
Chr14:77972374 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.723G>T (p.Thr241=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000279615] Chr14:77570417 [GRCh38]
Chr14:78036760 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_004863.3(SPTLC2):c.*100G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000297787] Chr14:77512184 [GRCh38]
Chr14:77978527 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*1134T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000298616] Chr14:77511150 [GRCh38]
Chr14:77977493 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*6080C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000317522] Chr14:77506204 [GRCh38]
Chr14:77972547 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*838G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000318660] Chr14:77511446 [GRCh38]
Chr14:77977789 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*4673_*4674insTG insertion Hereditary sensory and autonomic neuropathy type IC [RCV000263277] Chr14:77507610..77507611 [GRCh38]
Chr14:77973953..77973954 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.506G>C (p.Gly169Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000280475]|not specified [RCV000443157] Chr14:77576892 [GRCh38]
Chr14:78043235 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_004863.3(SPTLC2):c.-43C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000365904]|not specified [RCV000444061] Chr14:77616622 [GRCh38]
Chr14:78082965 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*3812C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000390922] Chr14:77508472 [GRCh38]
Chr14:77974815 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.1664C>T (p.Thr555Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000391034]|not provided [RCV000514154] Chr14:77512309 [GRCh38]
Chr14:77978652 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_004863.3(SPTLC2):c.*4914C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000391882] Chr14:77507370 [GRCh38]
Chr14:77973713 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*5357A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000391897] Chr14:77506927 [GRCh38]
Chr14:77973270 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_004863.3(SPTLC2):c.*4493dup duplication Hereditary sensory and autonomic neuropathy type IC [RCV000266838] Chr14:77507790..77507791 [GRCh38]
Chr14:77974133..77974134 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*3526A>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000321186] Chr14:77508758 [GRCh38]
Chr14:77975101 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*2749A>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000343217] Chr14:77509535 [GRCh38]
Chr14:77975878 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.-187C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000367160] Chr14:77616766 [GRCh38]
Chr14:78083109 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*2718_*2719delCT microsatellite Hereditary sensory and autonomic neuropathy type IC [RCV000393606] Chr14:77509565..77509566 [GRCh38]
Chr14:77975908..77975909 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.-37C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000393767] Chr14:77616616 [GRCh38]
Chr14:78082959 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.-160A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000271350] Chr14:77616739 [GRCh38]
Chr14:78083082 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1428T>G (p.Pro476=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000323185]|not specified [RCV000437768] Chr14:77521457 [GRCh38]
Chr14:77987800 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_004863.3(SPTLC2):c.*4115G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000345523] Chr14:77508169 [GRCh38]
Chr14:77974512 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_004863.3(SPTLC2):c.*5989dup duplication Hereditary sensory and autonomic neuropathy type IC [RCV000287123] Chr14:77506294..77506295 [GRCh38]
Chr14:77972637..77972638 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.*3457T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000272079] Chr14:77508827 [GRCh38]
Chr14:77975170 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*2960C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000282591] Chr14:77509324 [GRCh38]
Chr14:77975667 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*727C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000324668] Chr14:77511557 [GRCh38]
Chr14:77977900 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*4478C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000324265] Chr14:77507806 [GRCh38]
Chr14:77974149 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*542T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000325937] Chr14:77511742 [GRCh38]
Chr14:77978085 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*5358T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000347828] Chr14:77506926 [GRCh38]
Chr14:77973269 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*4037G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000349090] Chr14:77508247 [GRCh38]
Chr14:77974590 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*2966G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000372423] Chr14:77509318 [GRCh38]
Chr14:77975661 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*2910_*2912del deletion Hereditary sensory and autonomic neuropathy type IC [RCV000398577] Chr14:77509372..77509374 [GRCh38]
Chr14:77975715..77975717 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*1440G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000399517] Chr14:77510844 [GRCh38]
Chr14:77977187 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*4089del deletion Hereditary sensory and autonomic neuropathy type IC [RCV000399842] Chr14:77508195 [GRCh38]
Chr14:77974538 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*2314C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000273655] Chr14:77509970 [GRCh38]
Chr14:77976313 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*2702G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000308277] Chr14:77509582 [GRCh38]
Chr14:77975925 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*2159A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000375410] Chr14:77510125 [GRCh38]
Chr14:77976468 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*1655G>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000400913] Chr14:77510629 [GRCh38]
Chr14:77976972 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*2936_*2938dup duplication Hereditary sensory and autonomic neuropathy type IC [RCV000337574] Chr14:77509345..77509346 [GRCh38]
Chr14:77975688..77975689 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.*2622A>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000309340] Chr14:77509662 [GRCh38]
Chr14:77976005 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*3274C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000330708] Chr14:77509010 [GRCh38]
Chr14:77975353 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*4446G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000376513] Chr14:77507838 [GRCh38]
Chr14:77974181 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*1742C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000376578] Chr14:77510542 [GRCh38]
Chr14:77976885 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*3931G>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000402057] Chr14:77508353 [GRCh38]
Chr14:77974696 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*1077A>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000353735] Chr14:77511207 [GRCh38]
Chr14:77977550 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_004863.3(SPTLC2):c.*4503A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000354061] Chr14:77507781 [GRCh38]
Chr14:77974124 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*809C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000264880] Chr14:77511475 [GRCh38]
Chr14:77977818 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*3315C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000275669] Chr14:77508969 [GRCh38]
Chr14:77975312 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*4755C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000355640] Chr14:77507529 [GRCh38]
Chr14:77973872 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_004863.3(SPTLC2):c.*1221A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000311637] Chr14:77511063 [GRCh38]
Chr14:77977406 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.-181C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000312454] Chr14:77616760 [GRCh38]
Chr14:78083103 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*4825C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000312559] Chr14:77507459 [GRCh38]
Chr14:77973802 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_004863.3(SPTLC2):c.*2302A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000333490] Chr14:77509982 [GRCh38]
Chr14:77976325 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.723G>A (p.Thr241=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000334696]|not specified [RCV000424264] Chr14:77570417 [GRCh38]
Chr14:78036760 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_004863.3(SPTLC2):c.*6T>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000357261] Chr14:77512278 [GRCh38]
Chr14:77978621 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*5008G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000313646] Chr14:77507276 [GRCh38]
Chr14:77973619 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1569+8G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000358260] Chr14:77518030 [GRCh38]
Chr14:77984373 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*823G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000359411] Chr14:77511461 [GRCh38]
Chr14:77977804 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*3524A>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000359692] Chr14:77508760 [GRCh38]
Chr14:77975103 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.-30G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000360345]|not specified [RCV000441468] Chr14:77616609 [GRCh38]
Chr14:78082952 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.*4198C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000384458] Chr14:77508086 [GRCh38]
Chr14:77974429 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*536T>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000385188] Chr14:77511748 [GRCh38]
Chr14:77978091 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_004863.3(SPTLC2):c.*2177A>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000316108] Chr14:77510107 [GRCh38]
Chr14:77976450 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.*3637G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000360818] Chr14:77508647 [GRCh38]
Chr14:77974990 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.761G>C (p.Cys254Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000387934] Chr14:77562485 [GRCh38]
Chr14:78028828 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*1936A>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000280404] Chr14:77510348 [GRCh38]
Chr14:77976691 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*1709G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000341736] Chr14:77510575 [GRCh38]
Chr14:77976918 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.*3224C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000389861] Chr14:77509060 [GRCh38]
Chr14:77975403 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.4(SPTLC2):c.116C>T (p.Ala39Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001367935] Chr14:77616464 [GRCh38]
Chr14:78082807 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1196G>A (p.Arg399Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000531204] Chr14:77552203 [GRCh38]
Chr14:78018546 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*3454C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000329488] Chr14:77508830 [GRCh38]
Chr14:77975173 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1570-13T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000303701] Chr14:77512416 [GRCh38]
Chr14:77978759 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*3396A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000381830] Chr14:77508888 [GRCh38]
Chr14:77975231 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*135C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000401130] Chr14:77512149 [GRCh38]
Chr14:77978492 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*303G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000402298] Chr14:77511981 [GRCh38]
Chr14:77978324 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*1521G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000306554] Chr14:77510763 [GRCh38]
Chr14:77977106 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*2981del deletion Hereditary sensory and autonomic neuropathy type IC [RCV000336420] Chr14:77509303 [GRCh38]
Chr14:77975646 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*152A>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000351602] Chr14:77512132 [GRCh38]
Chr14:77978475 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*2275C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000387983] Chr14:77510009 [GRCh38]
Chr14:77976352 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*4948A>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000370551] Chr14:77507336 [GRCh38]
Chr14:77973679 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*5915T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000339535] Chr14:77506369 [GRCh38]
Chr14:77972712 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1065A>T (p.Thr355=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001394399]|not specified [RCV000604375] Chr14:77555411 [GRCh38]
Chr14:78021754 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.*3668G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000298986] Chr14:77508616 [GRCh38]
Chr14:77974959 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*1832T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000340649] Chr14:77510452 [GRCh38]
Chr14:77976795 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*3813G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000357175] Chr14:77508471 [GRCh38]
Chr14:77974814 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*4402G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000327688] Chr14:77507882 [GRCh38]
Chr14:77974225 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.*6018A>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000379187] Chr14:77506266 [GRCh38]
Chr14:77972609 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1226C>A (p.Thr409Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000529406] Chr14:77552173 [GRCh38]
Chr14:78018516 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1226C>T (p.Thr409Met) single nucleotide variant not specified [RCV000414711] Chr14:77552173 [GRCh38]
Chr14:78018516 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1439+3A>G single nucleotide variant not provided [RCV000416198] Chr14:77521443 [GRCh38]
Chr14:77987786 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1148C>T (p.Ala383Val) single nucleotide variant not provided [RCV000416257] Chr14:77555328 [GRCh38]
Chr14:78021671 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1313G>A (p.Cys438Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000537401] Chr14:77521572 [GRCh38]
Chr14:77987915 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_004863.3(SPTLC2):c.1176+7G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648372]|not specified [RCV000420645] Chr14:77555293 [GRCh38]
Chr14:78021636 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.-30G>C single nucleotide variant not specified [RCV000437812] Chr14:77616609 [GRCh38]
Chr14:78082952 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.*6T>C single nucleotide variant not specified [RCV000434536] Chr14:77512278 [GRCh38]
Chr14:77978621 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.1227G>A (p.Thr409=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648373]|not specified [RCV000431329] Chr14:77552172 [GRCh38]
Chr14:78018515 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.1603T>C (p.Leu535=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000974801]|not specified [RCV000434752] Chr14:77512370 [GRCh38]
Chr14:77978713 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.963G>A (p.Glu321=) single nucleotide variant not specified [RCV000442206] Chr14:77555513 [GRCh38]
Chr14:78021856 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.128G>C (p.Gly43Ala) single nucleotide variant not specified [RCV000435404] Chr14:77616452 [GRCh38]
Chr14:78082795 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.612C>T (p.Cys204=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000876897]|not specified [RCV000419365] Chr14:77576786 [GRCh38]
Chr14:78043129 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.432C>T (p.Ala144=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000873066]|not specified [RCV000435910] Chr14:77579005 [GRCh38]
Chr14:78045348 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.956+10C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001425141]|not specified [RCV000419743] Chr14:77557031 [GRCh38]
Chr14:78023374 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.619C>A (p.Arg207=) single nucleotide variant not specified [RCV000425783] Chr14:77576779 [GRCh38]
Chr14:78043122 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.561A>G (p.Ser187=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648369]|not specified [RCV000432927] Chr14:77576837 [GRCh38]
Chr14:78043180 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.1057G>A (p.Gly353Ser) single nucleotide variant not provided [RCV000419979] Chr14:77555419 [GRCh38]
Chr14:78021762 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.756+17T>G single nucleotide variant not specified [RCV000429943] Chr14:77570367 [GRCh38]
Chr14:78036710 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.300C>T (p.His100=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001448800]|not provided [RCV000936170]|not specified [RCV000430139] Chr14:77597213 [GRCh38]
Chr14:78063556 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.1614G>A (p.Lys538=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000876896]|not specified [RCV000430249] Chr14:77512359 [GRCh38]
Chr14:77978702 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.-38C>T single nucleotide variant not specified [RCV000437296] Chr14:77616617 [GRCh38]
Chr14:78082960 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.1440-5T>G single nucleotide variant not specified [RCV000444734] Chr14:77518172 [GRCh38]
Chr14:77984515 [GRCh37]
Chr14:14q24.3
likely benign
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_004863.3(SPTLC2):c.1628G>A (p.Arg543Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648364]|not specified [RCV000506294] Chr14:77512345 [GRCh38]
Chr14:77978688 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1 copy number loss See cases [RCV000511668] Chr14:76082940..78372356 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.529A>G (p.Asn177Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000703685]|not provided [RCV000492801] Chr14:77576869 [GRCh38]
Chr14:78043212 [GRCh37]
Chr14:14q24.3
pathogenic|uncertain significance
NM_004863.3(SPTLC2):c.994G>T (p.Ala332Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000555672] Chr14:77555482 [GRCh38]
Chr14:78021825 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.99C>A (p.Ser33Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000576186] Chr14:77616481 [GRCh38]
Chr14:78082824 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.445A>G (p.Met149Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001219258]|not provided [RCV000519460] Chr14:77578992 [GRCh38]
Chr14:78045335 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1546C>T (p.His516Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000626186] Chr14:77518061 [GRCh38]
Chr14:77984404 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1304-4C>G single nucleotide variant not specified [RCV000615459] Chr14:77521585 [GRCh38]
Chr14:77987928 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.483-6G>T single nucleotide variant not specified [RCV000615600] Chr14:77576921 [GRCh38]
Chr14:78043264 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.1320A>G (p.Gln440=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648371]|not specified [RCV000615620] Chr14:77521565 [GRCh38]
Chr14:77987908 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.1059C>T (p.Gly353=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001424332]|not specified [RCV000601903] Chr14:77555417 [GRCh38]
Chr14:78021760 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.597T>C (p.Tyr199=) single nucleotide variant not specified [RCV000610750] Chr14:77576801 [GRCh38]
Chr14:78043144 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.4(SPTLC2):c.105AGCCGC[2] (p.Ala41_Ala42del) microsatellite Hereditary sensory and autonomic neuropathy type IC [RCV000875663]|not specified [RCV000608431] Chr14:77616458..77616463 [GRCh38]
Chr14:78082801..78082806 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.245C>T (p.Thr82Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000557606] Chr14:77597268 [GRCh38]
Chr14:78063611 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.166A>G (p.Lys56Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000557712] Chr14:77597347 [GRCh38]
Chr14:78063690 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1450C>T (p.Arg484Trp) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000540052] Chr14:77518157 [GRCh38]
Chr14:77984500 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.174G>A (p.Pro58=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648370]|not specified [RCV000604296] Chr14:77597339 [GRCh38]
Chr14:78063682 [GRCh37]
Chr14:14q24.3
benign|likely benign
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
NM_004863.3(SPTLC2):c.1050C>T (p.Gly350=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000874908]|not specified [RCV000606091] Chr14:77555426 [GRCh38]
Chr14:78021769 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_004863.3(SPTLC2):c.406C>T (p.Arg136Trp) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648356] Chr14:77579031 [GRCh38]
Chr14:78045374 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.398A>G (p.Asn133Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648357] Chr14:77579039 [GRCh38]
Chr14:78045382 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.70G>C (p.Glu24Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648358] Chr14:77616510 [GRCh38]
Chr14:78082853 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.575C>T (p.Ala192Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648359] Chr14:77576823 [GRCh38]
Chr14:78043166 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.119CCG[5] (p.Ala41_Ala42dup) microsatellite Hereditary sensory and autonomic neuropathy type IC [RCV000648360] Chr14:77616452..77616453 [GRCh38]
Chr14:78082795..78082796 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1032T>G (p.Asp344Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648361] Chr14:77555444 [GRCh38]
Chr14:78021787 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1481T>C (p.Val494Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648362] Chr14:77518126 [GRCh38]
Chr14:77984469 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.44G>A (p.Arg15Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648363] Chr14:77616536 [GRCh38]
Chr14:78082879 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.415T>C (p.Cys139Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648365] Chr14:77579022 [GRCh38]
Chr14:78045365 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1470C>T (p.Asn490=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648367]|not provided [RCV001093131] Chr14:77518137 [GRCh38]
Chr14:77984480 [GRCh37]
Chr14:14q24.3
benign|likely benign|uncertain significance
NM_004863.3(SPTLC2):c.1303+9T>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000648368] Chr14:77552087 [GRCh38]
Chr14:78018430 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.263G>A (p.Arg88Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000698188] Chr14:77597250 [GRCh38]
Chr14:78063593 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.3(chr14:77906706-78161647)x3 copy number gain not provided [RCV000683596] Chr14:77906706..78161647 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.977G>A (p.Arg326His) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000702368] Chr14:77555499 [GRCh38]
Chr14:78021842 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.760T>C (p.Cys254Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000692728] Chr14:77562486 [GRCh38]
Chr14:78028829 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1035G>A (p.Glu345=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000694584] Chr14:77555441 [GRCh38]
Chr14:78021784 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.327+5C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000690071] Chr14:77597181 [GRCh38]
Chr14:78063524 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1622G>A (p.Arg541His) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000693397] Chr14:77512351 [GRCh38]
Chr14:77978694 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.109G>T (p.Ala37Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000688173] Chr14:77616471 [GRCh38]
Chr14:78082814 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.565C>A (p.Gln189Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000685979] Chr14:77576833 [GRCh38]
Chr14:78043176 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.132+5G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000697178] Chr14:77616443 [GRCh38]
Chr14:78082786 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.8:g.(?_77743699)_(78082942_?)dup duplication Hereditary sensory and autonomic neuropathy type IC [RCV000820601] Chr14:77277356..77616599 [GRCh38]
Chr14:77743699..78082942 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_004863.4(SPTLC2):c.*4107C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116272] Chr14:77508177 [GRCh38]
Chr14:77974520 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*3819C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001117711] Chr14:77508465 [GRCh38]
Chr14:77974808 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*3785G>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001117713] Chr14:77508499 [GRCh38]
Chr14:77974842 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.414C>T (p.Ile138=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000882422] Chr14:77579023 [GRCh38]
Chr14:78045366 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.81C>T (p.Asn27=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001414044]|not provided [RCV000944708] Chr14:77616499 [GRCh38]
Chr14:78082842 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.4(SPTLC2):c.736A>G (p.Ile246Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001052964] Chr14:77570404 [GRCh38]
Chr14:78036747 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1288G>C (p.Asp430His) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001039330] Chr14:77552111 [GRCh38]
Chr14:78018454 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.248T>G (p.Leu83Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001071595] Chr14:77597265 [GRCh38]
Chr14:78063608 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.238G>A (p.Val80Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001042678] Chr14:77597275 [GRCh38]
Chr14:78063618 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.116_127del (p.Ala39_Ala42del) deletion Hereditary sensory and autonomic neuropathy type IC [RCV001059589] Chr14:77616453..77616464 [GRCh38]
Chr14:78082796..78082807 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.133-221dup duplication not provided [RCV000829733] Chr14:77597599..77597600 [GRCh38]
Chr14:78063942..78063943 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.905G>A (p.Arg302Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000806124] Chr14:77557092 [GRCh38]
Chr14:78023435 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.237C>T (p.Gly79=) single nucleotide variant not provided [RCV000899889] Chr14:77597276 [GRCh38]
Chr14:78063619 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.73G>C (p.Val25Leu) single nucleotide variant not provided [RCV000876510] Chr14:77616507 [GRCh38]
Chr14:78082850 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.756+10T>C single nucleotide variant not provided [RCV000874075] Chr14:77570374 [GRCh38]
Chr14:78036717 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.837C>T (p.Ile279=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001439099]|not provided [RCV000941927] Chr14:77562409 [GRCh38]
Chr14:78028752 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.936C>T (p.Ile312=) single nucleotide variant not provided [RCV000873585] Chr14:77557061 [GRCh38]
Chr14:78023404 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.355G>A (p.Glu119Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000802496] Chr14:77579082 [GRCh38]
Chr14:78045425 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.702_708del (p.Tyr235fs) deletion Hereditary sensory and autonomic neuropathy type IC [RCV000810032] Chr14:77570432..77570438 [GRCh38]
Chr14:78036775..78036781 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.350A>G (p.Asp117Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000804413] Chr14:77579087 [GRCh38]
Chr14:78045430 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.850+34G>A single nucleotide variant not provided [RCV000833953] Chr14:77562362 [GRCh38]
Chr14:78028705 [GRCh37]
Chr14:14q24.3
likely benign
NC_000014.8:g.(?_78045288)_(78045462_?)dup duplication Hereditary sensory and autonomic neuropathy type IC [RCV000820582] Chr14:77578945..77579119 [GRCh38]
Chr14:78045288..78045462 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.911G>A (p.Arg304Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000802954] Chr14:77557086 [GRCh38]
Chr14:78023429 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.620G>A (p.Arg207Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000823591] Chr14:77576778 [GRCh38]
Chr14:78043121 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.890T>C (p.Val297Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000824205] Chr14:77557107 [GRCh38]
Chr14:78023450 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1177-49G>A single nucleotide variant not provided [RCV000829725] Chr14:77552271 [GRCh38]
Chr14:78018614 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.648T>G (p.His216Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000805235] Chr14:77570492 [GRCh38]
Chr14:78036835 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.851-225T>C single nucleotide variant not provided [RCV000829270] Chr14:77557371 [GRCh38]
Chr14:78023714 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.1303+193A>G single nucleotide variant not provided [RCV000829271] Chr14:77551903 [GRCh38]
Chr14:78018246 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.1177-317G>A single nucleotide variant not provided [RCV000833008] Chr14:77552539 [GRCh38]
Chr14:78018882 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.632-49del deletion not provided [RCV000829723] Chr14:77570557 [GRCh38]
Chr14:78036900 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.851-293G>A single nucleotide variant not provided [RCV000826289] Chr14:77557439 [GRCh38]
Chr14:78023782 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.163T>C (p.Tyr55His) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000818678] Chr14:77597350 [GRCh38]
Chr14:78063693 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.133-101del deletion not provided [RCV000829734] Chr14:77597481 [GRCh38]
Chr14:78063824 [GRCh37]
Chr14:14q24.3
benign
NM_004863.4(SPTLC2):c.105AGCCGC[4] (p.Ala41_Ala42dup) microsatellite Hereditary sensory and autonomic neuropathy type IC [RCV001228780]|not provided [RCV000840902] Chr14:77616457..77616458 [GRCh38]
Chr14:78082800..78082801 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_004863.4(SPTLC2):c.956+308_956+312del deletion not provided [RCV000826290] Chr14:77556729..77556733 [GRCh38]
Chr14:78023072..78023076 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.957-132G>A single nucleotide variant not provided [RCV000833718] Chr14:77555651 [GRCh38]
Chr14:78021994 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.1303+233C>G single nucleotide variant not provided [RCV000833719] Chr14:77551863 [GRCh38]
Chr14:78018206 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.1439+4C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000796498] Chr14:77521442 [GRCh38]
Chr14:77987785 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.-427G>A single nucleotide variant not provided [RCV000826287] Chr14:77617006 [GRCh38]
Chr14:78083349 [GRCh37]
Chr14:14q24.3
benign
GRCh37/hg19 14q24.3(chr14:77994374-78042764)x3 copy number gain not provided [RCV000848552] Chr14:77994374..78042764 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.632-84T>C single nucleotide variant not provided [RCV000829722] Chr14:77570592 [GRCh38]
Chr14:78036935 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.1440-30T>G single nucleotide variant not provided [RCV000833537] Chr14:77518197 [GRCh38]
Chr14:77984540 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.4(SPTLC2):c.*5303A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001117601] Chr14:77506981 [GRCh38]
Chr14:77973324 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*3809T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001117712] Chr14:77508475 [GRCh38]
Chr14:77974818 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1304-34G>T single nucleotide variant not provided [RCV000829741] Chr14:77521615 [GRCh38]
Chr14:77987958 [GRCh37]
Chr14:14q24.3
benign
NC_000014.9:g.(?_77512274)_(77579119_?)dup duplication Hereditary sensory and autonomic neuropathy type IC [RCV001031967] Chr14:77978617..78045462 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*6068C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116162] Chr14:77506216 [GRCh38]
Chr14:77972559 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*5892C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116163] Chr14:77506392 [GRCh38]
Chr14:77972735 [GRCh37]
Chr14:14q24.3
benign
NM_004863.4(SPTLC2):c.*5852A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116164] Chr14:77506432 [GRCh38]
Chr14:77972775 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*4108G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116271] Chr14:77508176 [GRCh38]
Chr14:77974519 [GRCh37]
Chr14:14q24.3
benign
NM_004863.4(SPTLC2):c.*5032T>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001117602] Chr14:77507252 [GRCh38]
Chr14:77973595 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*946C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001117924] Chr14:77511338 [GRCh38]
Chr14:77977681 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*4842A>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001119195] Chr14:77507442 [GRCh38]
Chr14:77973785 [GRCh37]
Chr14:14q24.3
benign
NM_004863.4(SPTLC2):c.*4682C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001119196] Chr14:77507602 [GRCh38]
Chr14:77973945 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.756+333C>T single nucleotide variant not provided [RCV000826288] Chr14:77570051 [GRCh38]
Chr14:78036394 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.1451G>A (p.Arg484Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000791801] Chr14:77518156 [GRCh38]
Chr14:77984499 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*1612G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116476] Chr14:77510672 [GRCh38]
Chr14:77977015 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.482+223T>A single nucleotide variant not provided [RCV000829268] Chr14:77578732 [GRCh38]
Chr14:78045075 [GRCh37]
Chr14:14q24.3
benign
NC_000014.8:g.(?_77978617)_(78082932_?)dup duplication Hereditary sensory and autonomic neuropathy type IC [RCV000800658] Chr14:77512274..77616589 [GRCh38]
Chr14:77978617..78082932 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.301C>T (p.His101Tyr) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000814774] Chr14:77597212 [GRCh38]
Chr14:78063555 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1070G>A (p.Arg357Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000815058] Chr14:77555406 [GRCh38]
Chr14:78021749 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1176+98C>T single nucleotide variant not provided [RCV000836872] Chr14:77555202 [GRCh38]
Chr14:78021545 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.996C>T (p.Ala332=) single nucleotide variant not provided [RCV000841435] Chr14:77555480 [GRCh38]
Chr14:78021823 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.757-250G>A single nucleotide variant not provided [RCV000829269] Chr14:77562739 [GRCh38]
Chr14:78029082 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.1440-63G>A single nucleotide variant not provided [RCV000829274] Chr14:77518230 [GRCh38]
Chr14:77984573 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789584]|Hereditary sensory and autonomic neuropathy type IC [RCV000796505] Chr14:77555325 [GRCh38]
Chr14:78021668 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic|uncertain significance
NM_004863.3(SPTLC2):c.496A>T (p.Ile166Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000792013] Chr14:77576902 [GRCh38]
Chr14:78043245 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.631+130del deletion not provided [RCV000831449] Chr14:77576637 [GRCh38]
Chr14:78042980 [GRCh37]
Chr14:14q24.3
benign
NM_004863.3(SPTLC2):c.135C>G (p.Ile45Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000816780] Chr14:77597378 [GRCh38]
Chr14:78063721 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.851-30G>C single nucleotide variant not provided [RCV000829724] Chr14:77557176 [GRCh38]
Chr14:78023519 [GRCh37]
Chr14:14q24.3
benign
NM_004863.4(SPTLC2):c.*2962C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116370] Chr14:77509322 [GRCh38]
Chr14:77975665 [GRCh37]
Chr14:14q24.3
benign
NM_004863.4(SPTLC2):c.*1622G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116475] Chr14:77510662 [GRCh38]
Chr14:77977005 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.788A>G (p.His263Arg) single nucleotide variant not provided [RCV000991280] Chr14:77562458 [GRCh38]
Chr14:78028801 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1 copy number loss not provided [RCV000847566] Chr14:77274990..89803137 [GRCh37]
Chr14:14q24.3-32.11
pathogenic
NM_004863.4(SPTLC2):c.1511T>C (p.Ile504Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001221988] Chr14:77518096 [GRCh38]
Chr14:77984439 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.748G>A (p.Val250Ile) single nucleotide variant not provided [RCV000995223] Chr14:77570392 [GRCh38]
Chr14:78036735 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1439+5G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001222617] Chr14:77521441 [GRCh38]
Chr14:77987784 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1118T>C (p.Met373Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001225916] Chr14:77555358 [GRCh38]
Chr14:78021701 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*946C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001117925] Chr14:77511338 [GRCh38]
Chr14:77977681 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1659C>T (p.Asp553=) single nucleotide variant not provided [RCV000936513] Chr14:77512314 [GRCh38]
Chr14:77978657 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3:c.544G>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000855433]   pathogenic
NM_004863.3(SPTLC2):c.747T>C (p.Leu249=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV000953889] Chr14:77570393 [GRCh38]
Chr14:78036736 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.3(SPTLC2):c.264A>C (p.Arg88=) single nucleotide variant not provided [RCV000887738] Chr14:77597249 [GRCh38]
Chr14:78063592 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.4(SPTLC2):c.*3380A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001121285] Chr14:77508904 [GRCh38]
Chr14:77975247 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*3348G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001121286] Chr14:77508936 [GRCh38]
Chr14:77975279 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*5799C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116165] Chr14:77506485 [GRCh38]
Chr14:77972828 [GRCh37]
Chr14:14q24.3
benign
NM_004863.4(SPTLC2):c.*2847T>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116371] Chr14:77509437 [GRCh38]
Chr14:77975780 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.418A>G (p.Ser140Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001069544] Chr14:77579019 [GRCh38]
Chr14:78045362 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*4950A>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001117603] Chr14:77507334 [GRCh38]
Chr14:77973677 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.13C>T (p.Pro5Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001243936] Chr14:77616567 [GRCh38]
Chr14:78082910 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*6169G>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001121075] Chr14:77506115 [GRCh38]
Chr14:77972458 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.3(SPTLC2):c.1377C>A (p.Ile459=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001396704]|not provided [RCV000934521] Chr14:77521508 [GRCh38]
Chr14:77987851 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.4(SPTLC2):c.1009T>C (p.Tyr337His) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001196208] Chr14:77555467 [GRCh38]
Chr14:78021810 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*2777G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001117819] Chr14:77509507 [GRCh38]
Chr14:77975850 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*2375C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001117821] Chr14:77509909 [GRCh38]
Chr14:77976252 [GRCh37]
Chr14:14q24.3
benign
NM_004863.4(SPTLC2):c.*4276G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001121195] Chr14:77508008 [GRCh38]
Chr14:77974351 [GRCh37]
Chr14:14q24.3
benign
NC_000014.9:g.(?_77616438)_(77616589_?)del deletion Hereditary sensory and autonomic neuropathy type IC [RCV001031080] Chr14:78082781..78082932 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*1997T>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001121383] Chr14:77510287 [GRCh38]
Chr14:77976630 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.187T>C (p.Phe63Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001071831] Chr14:77597326 [GRCh38]
Chr14:78063669 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.360C>G (p.Asn120Lys) single nucleotide variant Pes cavus [RCV001196185] Chr14:77579077 [GRCh38]
Chr14:78045420 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.35G>C (p.Arg12Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001042110] Chr14:77616545 [GRCh38]
Chr14:78082888 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*5510C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001117600] Chr14:77506774 [GRCh38]
Chr14:77973117 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1213G>A (p.Ala405Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001220287] Chr14:77552186 [GRCh38]
Chr14:78018529 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.778G>A (p.Glu260Lys) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001208624] Chr14:77562468 [GRCh38]
Chr14:78028811 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.533A>G (p.Tyr178Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001248720] Chr14:77576865 [GRCh38]
Chr14:78043208 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.610T>G (p.Cys204Gly) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001233045] Chr14:77576788 [GRCh38]
Chr14:78043131 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*513C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001119473] Chr14:77511771 [GRCh38]
Chr14:77978114 [GRCh37]
Chr14:14q24.3
benign
NM_004863.4(SPTLC2):c.502A>G (p.Lys168Glu) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001119567] Chr14:77576896 [GRCh38]
Chr14:78043239 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*365A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001121474] Chr14:77511919 [GRCh38]
Chr14:77978262 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1217T>C (p.Val406Ala) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001041023] Chr14:77552182 [GRCh38]
Chr14:78018525 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*4052G>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116273] Chr14:77508232 [GRCh38]
Chr14:77974575 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*4030T>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116274] Chr14:77508254 [GRCh38]
Chr14:77974597 [GRCh37]
Chr14:14q24.3
benign
NM_004863.4(SPTLC2):c.*3084A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116369] Chr14:77509200 [GRCh38]
Chr14:77975543 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*2807C>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116372] Chr14:77509477 [GRCh38]
Chr14:77975820 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.842A>G (p.Lys281Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001236544] Chr14:77562404 [GRCh38]
Chr14:78028747 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.430G>A (p.Ala144Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001053930] Chr14:77579007 [GRCh38]
Chr14:78045350 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*3286C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001121287] Chr14:77508998 [GRCh38]
Chr14:77975341 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*1658G>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001121384] Chr14:77510626 [GRCh38]
Chr14:77976969 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.133-12C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001121570] Chr14:77597392 [GRCh38]
Chr14:78063735 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.934A>G (p.Ile312Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001064770] Chr14:77557063 [GRCh38]
Chr14:78023406 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*2672A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001117820] Chr14:77509612 [GRCh38]
Chr14:77975955 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.455A>G (p.Gln152Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001055063] Chr14:77578982 [GRCh38]
Chr14:78045325 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.756+6A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001052774] Chr14:77570378 [GRCh38]
Chr14:78036721 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*3666T>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001117714] Chr14:77508618 [GRCh38]
Chr14:77974961 [GRCh37]
Chr14:14q24.3
benign
NM_004863.4(SPTLC2):c.1144G>C (p.Gly382Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001062926] Chr14:77555332 [GRCh38]
Chr14:78021675 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*3261C>A single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001121288] Chr14:77509023 [GRCh38]
Chr14:77975366 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.737T>C (p.Ile246Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001056870] Chr14:77570403 [GRCh38]
Chr14:78036746 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*1185G>C single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001116477] Chr14:77511099 [GRCh38]
Chr14:77977442 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.*419C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001121473] Chr14:77511865 [GRCh38]
Chr14:77978208 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.865G>C (p.Glu289Gln) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001048570] Chr14:77557132 [GRCh38]
Chr14:78023475 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.3-31.1(chr14:78075661-79605863)x4 copy number gain not provided [RCV001259789] Chr14:78075661..79605863 [GRCh37]
Chr14:14q24.3-31.1
uncertain significance
NM_004863.4(SPTLC2):c.1621C>T (p.Arg541Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001352078] Chr14:77512352 [GRCh38]
Chr14:77978695 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.829A>G (p.Ile277Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001309976] Chr14:77562417 [GRCh38]
Chr14:78028760 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1447G>T (p.Gly483Ter) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001307720] Chr14:77518160 [GRCh38]
Chr14:77984503 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1312T>C (p.Cys438Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001320941] Chr14:77521573 [GRCh38]
Chr14:77987916 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.8:g.(?_77984371)_(77984520_?)del deletion Hereditary sensory and autonomic neuropathy type IC [RCV001324798] Chr14:77984371..77984520 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.8:g.(?_77978617)_(78045462_?)dup duplication Hereditary sensory and autonomic neuropathy type IC [RCV001324799] Chr14:77978617..78045462 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.8C>T (p.Pro3Leu) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001302268] Chr14:77616572 [GRCh38]
Chr14:78082915 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.583G>A (p.Val195Ile) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001294529] Chr14:77576815 [GRCh38]
Chr14:78043158 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1403_1413del (p.Val468fs) deletion Hereditary sensory and autonomic neuropathy type IC [RCV001319486] Chr14:77521472..77521482 [GRCh38]
Chr14:77987815..77987825 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.33C>T (p.Arg11=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001397383] Chr14:77616547 [GRCh38]
Chr14:78082890 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.4(SPTLC2):c.461A>G (p.His154Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001371721] Chr14:77578976 [GRCh38]
Chr14:78045319 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.756+8dup duplication Hereditary sensory and autonomic neuropathy type IC [RCV001392761] Chr14:77570375..77570376 [GRCh38]
Chr14:78036718..78036719 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.4(SPTLC2):c.467A>G (p.Tyr156Cys) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001307374] Chr14:77578970 [GRCh38]
Chr14:78045313 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1570_1572delinsATC (p.Ala524Ile) indel Hereditary sensory and autonomic neuropathy type IC [RCV001344815] Chr14:77512401..77512403 [GRCh38]
Chr14:77978744..77978746 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1127C>T (p.Thr376Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001350947] Chr14:77555349 [GRCh38]
Chr14:78021692 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1060C>T (p.Pro354Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001300066] Chr14:77555416 [GRCh38]
Chr14:78021759 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.691G>A (p.Ala231Thr) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001365052] Chr14:77570449 [GRCh38]
Chr14:78036792 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1176+4A>G single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001360929] Chr14:77555296 [GRCh38]
Chr14:78021639 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.466T>C (p.Tyr156His) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001322082] Chr14:77578971 [GRCh38]
Chr14:78045314 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.8:g.(?_78082781)_(78082932_?)del deletion Hereditary sensory and autonomic neuropathy type IC [RCV001300460] Chr14:78082781..78082932 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.8:g.(?_78045288)_(78045462_?)dup duplication Hereditary sensory and autonomic neuropathy type IC [RCV001300461] Chr14:78045288..78045462 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.8:g.(?_77978617)_(77978756_?)del deletion Hereditary sensory and autonomic neuropathy type IC [RCV001344220] Chr14:77978617..77978756 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1176+6C>T single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001343149] Chr14:77555294 [GRCh38]
Chr14:78021637 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.872T>C (p.Leu291Pro) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001344428] Chr14:77557125 [GRCh38]
Chr14:78023468 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.302A>G (p.His101Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001337428] Chr14:77597211 [GRCh38]
Chr14:78063554 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.675G>T (p.Arg225Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001366390] Chr14:77570465 [GRCh38]
Chr14:78036808 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.38C>T (p.Thr13Met) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001366625] Chr14:77616542 [GRCh38]
Chr14:78082885 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.1051G>T (p.Ala351Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001309426] Chr14:77555425 [GRCh38]
Chr14:78021768 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.958A>G (p.Met320Val) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001309428] Chr14:77555518 [GRCh38]
Chr14:78021861 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.208G>T (p.Val70Phe) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001367862] Chr14:77597305 [GRCh38]
Chr14:78063648 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.65A>G (p.Asn22Ser) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001368439] Chr14:77616515 [GRCh38]
Chr14:78082858 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.857A>G (p.Gln286Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001327182] Chr14:77557140 [GRCh38]
Chr14:78023483 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.820G>A (p.Gly274Arg) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001365656] Chr14:77562426 [GRCh38]
Chr14:78028769 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.12G>T (p.Glu4Asp) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001365950] Chr14:77616568 [GRCh38]
Chr14:78082911 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_004863.4(SPTLC2):c.132+10del deletion Hereditary sensory and autonomic neuropathy type IC [RCV001435858] Chr14:77616438 [GRCh38]
Chr14:78082781 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.4(SPTLC2):c.1284G>A (p.Gly428=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001436106] Chr14:77552115 [GRCh38]
Chr14:78018458 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.4(SPTLC2):c.444C>T (p.Ile148=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001424484] Chr14:77578993 [GRCh38]
Chr14:78045336 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.4(SPTLC2):c.273G>A (p.Leu91=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001445937] Chr14:77597240 [GRCh38]
Chr14:78063583 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.4(SPTLC2):c.1062C>A (p.Pro354=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001418856] Chr14:77555414 [GRCh38]
Chr14:78021757 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.4(SPTLC2):c.1473C>T (p.Ile491=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001444368] Chr14:77518134 [GRCh38]
Chr14:77984477 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.4(SPTLC2):c.231G>A (p.Gly77=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001442246] Chr14:77597282 [GRCh38]
Chr14:78063625 [GRCh37]
Chr14:14q24.3
likely benign
NM_004863.4(SPTLC2):c.222G>A (p.Thr74=) single nucleotide variant Hereditary sensory and autonomic neuropathy type IC [RCV001435369] Chr14:77597291 [GRCh38]
Chr14:78063634 [GRCh37]
Chr14:14q24.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11278 AgrOrtholog
COSMIC SPTLC2 COSMIC
Ensembl Genes ENSG00000100596 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000216484 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000451029 UniProtKB/TrEMBL
  ENSP00000452189 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000216484 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000554901 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000556607 UniProtKB/TrEMBL
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100596 GTEx
HGNC ID HGNC:11278 ENTREZGENE
Human Proteome Map SPTLC2 Human Proteome Map
InterPro Aminotrans_II_pyridoxalP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aminotransferase_I/II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9517 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9517 ENTREZGENE
OMIM 605713 OMIM
  613640 OMIM
Pfam Aminotran_1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36107 PharmGKB
PROSITE AA_TRANSFER_CLASS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R6H1 ENTREZGENE, UniProtKB/TrEMBL
  H0YJ96_HUMAN UniProtKB/TrEMBL
  H0YJV2_HUMAN UniProtKB/TrEMBL
  L8E997_HUMAN UniProtKB/TrEMBL
  O15270 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q16685 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 SPTLC2  serine palmitoyltransferase long chain base subunit 2    serine palmitoyltransferase, long chain base subunit 2  Symbol and/or name change 5135510 APPROVED