chr11:6413052:G>C Detail (hg19) (SMPD1)

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

Information

Genome

Assembly	Position
hg19	chr11:6,413,052-6,413,052
hg38	chr11:6,391,822-6,391,822 View the variant detail on this assembly version.

HGVS

SMPD1

Type	Transcript	Protein
RefSeq	NM_000543.4:c.757G>C	NP_000534.3:p.Asp253His
	NM_001007593.2:c.757G>C	NP_001007594.2:p.Asp253His
	NM_001318087.1:c.757G>C	NP_001305016.1:p.Asp253His
Ensemble	ENST00000342245.9:c.757G>C	ENST00000342245.9:p.Asp253His
	ENST00000527275.5:c.754G>C	ENST00000527275.5:p.Asp252His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

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 Likely pathogenic	2021-09-18	criteria provided, multiple submitters, no conflicts	Niemann-Pick disease, type A	germline unknown	Detail
Pathogenic	2019-12-12	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-11-05	criteria provided, single submitter	Niemann-Pick disease, type B,Niemann-Pick disease, type A	germline	Detail
Pathogenic	2023-11-05	criteria provided, single submitter	Niemann-Pick disease, type B,Niemann-Pick disease, type A	germline	Detail
Likely pathogenic	2019-07-24	no assertion criteria provided	Niemann-Pick disease, type B	unknown	Detail
Pathogenic	2020-01-22	criteria provided, single submitter	Sphingomyelin/cholesterol lipidosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.565	Niemann-Pick disease, type B	NA	CLINVAR		Detail
0.562	Niemann-Pick disease, type A	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) AND Niemann-Pick disease, type A	ClinVar	Detail
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) AND not provided	ClinVar	Detail
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) AND multiple conditions	ClinVar	Detail
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) AND multiple conditions	ClinVar	Detail
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) AND Niemann-Pick disease, type B	ClinVar	Detail
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) AND Sphingomyelin/cholesterol lipidosis	ClinVar	Detail
NA	DisGeNET	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: rs398123479 dbSNP
Genome: hg19
Position: chr11:6,413,052-6,413,052
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8486
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 119368
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.3774545941961E-6

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