chr11:6413206:T>C Detail (hg19) (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	chr11:6,413,206-6,413,206
hg38	chr11:6,391,976-6,391,976 View the variant detail on this assembly version.

HGVS

SMPD1

Type	Transcript	Protein
RefSeq	NM_000543.4:c.911T>C	NP_000534.3:p.Leu304Pro
	NM_001007593.2:c.911T>C	NP_001007594.2:p.Leu304Pro
	NM_001318087.1:c.911T>C	NP_001305016.1:p.Leu304Pro
Ensemble	ENST00000527275.5:c.908T>C	ENST00000527275.5:p.Leu303Pro
	ENST00000342245.9:c.911T>C	ENST00000342245.9:p.Leu304Pro

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
Pathogenic	2019-12-20	criteria provided, multiple submitters, no conflicts	Niemann-Pick disease, type A	germline unknown	Detail
Pathogenic	2013-04-25	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2020-01-22	criteria provided, single submitter	Sphingomyelin/cholesterol lipidosis	germline	Detail
Pathogenic	2015-09-10	no assertion criteria provided	Niemann-Pick disease, type B	unknown	Detail
Pathogenic	2024-01-08	criteria provided, multiple submitters, no conflicts	Niemann-Pick disease, type B,Niemann-Pick disease, type A	germline unknown	Detail
Pathogenic	2024-01-08	criteria provided, multiple submitters, no conflicts	Niemann-Pick disease, type B,Niemann-Pick disease, type A	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.266	Niemann-Pick Diseases	NA	CLINVAR		Detail
0.565	Niemann-Pick disease, type B	NA	CLINVAR		Detail
0.562	Niemann-Pick disease, type A	NA	CLINVAR		Detail
<0.001	Parkinson disease	The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Par...	BeFree	23535491	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) AND Niemann-Pick disease, type A	ClinVar	Detail
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) AND not provided	ClinVar	Detail
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) AND Sphingomyelin/cholesterol lipidosis	ClinVar	Detail
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) AND Niemann-Pick disease, type B	ClinVar	Detail
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) AND multiple conditions	ClinVar	Detail
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.	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: rs120074124 dbSNP
Genome: hg19
Position: chr11:6,413,206-6,413,206
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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