chr11:6392141:C>A Detail (hg38) (SMPD1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr11:6,413,371-6,413,371 View the variant detail on this assembly version.
hg38	chr11:6,392,141-6,392,141

HGVS

SMPD1

Type	Transcript	Protein
RefSeq	NM_000543.4:c.1076C>A	NP_000534.3:p.Ala359Asp
	NM_001007593.2:c.1076C>A	NP_001007594.2:p.Ala359Asp
	NM_001318087.1:c.1076C>A	NP_001305016.1:p.Ala359Asp
Ensemble	ENST00000342245.9:c.1076C>A	ENST00000342245.9:p.Ala359Asp
	ENST00000527275.5:c.1073C>A	ENST00000527275.5:p.Ala358Asp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

SMPD1

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
Pathogenic	2022-05-13	criteria provided, single submitter	Niemann-Pick disease, type A,Niemann-Pick disease, type B	germline	Detail
Pathogenic	2022-05-13	criteria provided, single submitter	Niemann-Pick disease, type A,Niemann-Pick disease, type B	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.266	Niemann-Pick Diseases	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp) AND Sphingomyelin/cholesterol lipidosis	ClinVar	Detail
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp) AND multiple conditions	ClinVar	Detail
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp) 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: -
dbSNP: rs797044800 dbSNP
Genome: hg38
Position: chr11:6,392,141-6,392,141
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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