chr11:6393667:C>A Detail (hg38) (SMPD1)

Information

Genome

Assembly Position
hg19 chr11:6,414,897-6,414,897 View the variant detail on this assembly version.
hg38 chr11:6,393,667-6,393,667

HGVS

Type Transcript Protein
RefSeq NM_000543.4:c.1314C>A NP_000534.3:p.Ser438Arg
NM_001007593.2:c.1314C>A NP_001007594.2:p.Ser438Arg
NM_001318087.1:c.1314C>A NP_001305016.1:p.Ser438Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 tgv273582751 TogoVar
COSMIC COSM6309507 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1992-01-01 no assertion criteria provided Niemann-Pick disease, type B 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.1314C>A (p.Ser438Arg) AND Niemann-Pick disease, type B 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
rs267607073 dbSNP
Genome
hg38
Position
chr11:6,393,667-6,393,667
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser