chr11:6391638:T> 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	chr11:6,412,868-6,412,868
hg38	chr11:6,391,638-6,391,638

HGVS

SMPD1

Type	Transcript	Protein
RefSeq	NM_000543.4:c.573delT	NP_000534.3:p.Ser192AlafsTer65
	NM_001007593.2:c.573delT	NP_001007594.2:p.Ser192AlafsTer65
	NM_001318087.1:c.573delT	NP_001305016.1:p.Ser192AlafsTer65
Ensemble	ENST00000342245.9:c.573delT	ENST00000342245.9:p.Ser192AlafsTer65
	ENST00000527275.5:c.570delT	ENST00000527275.5:p.Ser191AlafsTer65

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	tgv164091435	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-09-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-09-12	criteria provided, multiple submitters, no conflicts	Niemann-Pick disease, type A	germline unknown	Detail
Pathogenic	2024-01-24	criteria provided, single submitter	Niemann-Pick disease, type B,Niemann-Pick disease, type A	germline	Detail
Pathogenic	2024-01-24	criteria provided, single submitter	Niemann-Pick disease, type B,Niemann-Pick disease, type A	germline	Detail
Pathogenic	2018-01-09	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

Annotation

Annotations

Descrption	Source	Links
NM_000543.5(SMPD1):c.573del (p.Ser192fs) AND not provided	ClinVar	Detail
NM_000543.5(SMPD1):c.573del (p.Ser192fs) AND Niemann-Pick disease, type A	ClinVar	Detail
NM_000543.5(SMPD1):c.573del (p.Ser192fs) AND multiple conditions	ClinVar	Detail
NM_000543.5(SMPD1):c.573del (p.Ser192fs) AND multiple conditions	ClinVar	Detail
NM_000543.5(SMPD1):c.573del (p.Ser192fs) AND Niemann-Pick disease, type B	ClinVar	Detail
NM_000543.5(SMPD1):c.573del (p.Ser192fs) 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: rs727504167 dbSNP
Genome: hg38
Position: chr11:6,391,638-6,391,638
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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