chr11:6394203:C>T Detail (hg38) (SMPD1)

Information

Genome

Assembly Position
hg19 chr11:6,415,433-6,415,433 View the variant detail on this assembly version.
hg38 chr11:6,394,203-6,394,203

HGVS

Type Transcript Protein
RefSeq NM_000543.4:c.1492C>T NP_000534.3:p.Arg498Cys
NM_001007593.2:c.1492C>T NP_001007594.2:p.Arg498Cys
NM_001318087.1:c.1492C>T NP_001305016.1:p.Arg498Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 607608 OMIM
HGNC 11120 HGNC
Ensembl ENSG00000166311 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2022-01-11 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2023-09-05 criteria provided, multiple submitters, no conflicts Niemann-Pick disease, type A germline unknown Detail
Pathogenic 2023-10-16 criteria provided, single submitter Niemann-Pick disease, type B,Niemann-Pick disease, type A germline Detail
Pathogenic 2023-10-16 criteria provided, single submitter Niemann-Pick disease, type B,Niemann-Pick disease, type A germline Detail
Likely pathogenic 2020-01-22 criteria provided, single submitter Sphingomyelin/cholesterol lipidosis germline Detail
Likely pathogenic 2023-10-23 criteria provided, single submitter SMPD1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.565 Niemann-Pick disease, type B NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) AND not provided ClinVar Detail
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) AND Niemann-Pick disease, type A ClinVar Detail
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) AND multiple conditions ClinVar Detail
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) AND multiple conditions ClinVar Detail
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) AND Sphingomyelin/cholesterol lipidosis ClinVar Detail
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) AND SMPD1-related disorder ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs769904764 dbSNP
Genome
hg38
Position
chr11:6,394,203-6,394,203
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121128
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6511458952513043E-5
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