chr11:6415236:C>T Detail (hg19) (SMPD1)

Information

Genome

Assembly Position
hg19 chr11:6,415,236-6,415,236
hg38 chr11:6,394,006-6,394,006 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000543.4:c.1451C>T NP_000534.3:p.Ala484Val
NM_001007593.2:c.1451C>T NP_001007594.2:p.Ala484Val
NM_001318087.1:c.1451C>T NP_001305016.1:p.Ala484Val
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-07-13 criteria provided, single submitter Niemann-Pick disease, type B,Niemann-Pick disease, type A germline Detail
Pathogenic 2022-07-13 criteria provided, single submitter Niemann-Pick disease, type B,Niemann-Pick disease, type A germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 Niemann-Pick disease, type A NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000543.5(SMPD1):c.1451C>T (p.Ala484Val) AND multiple conditions ClinVar Detail
NM_000543.5(SMPD1):c.1451C>T (p.Ala484Val) AND multiple conditions 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
-
Genome
hg19
Position
chr11:6,415,236-6,415,236
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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