chr11:6413169:C>A Detail (hg19) (SMPD1)

Information

Genome

Assembly Position
hg19 chr11:6,413,169-6,413,169
hg38 chr11:6,391,939-6,391,939 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000543.4:c.874C>A NP_000534.3:p.Gln292Lys
NM_001007593.2:c.874C>A NP_001007594.2:p.Gln292Lys
NM_001318087.1:c.874C>A NP_001305016.1:p.Gln292Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
not provided no assertion provided Sphingomyelin/cholesterol lipidosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.266 Niemann-Pick Diseases NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000543.5(SMPD1):c.874C>A (p.Gln292Lys) AND Sphingomyelin/cholesterol lipidosis 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
rs797044799 dbSNP
Genome
hg19
Position
chr11:6,413,169-6,413,169
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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