chr11:6414465:CT> 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	chr11:6,414,465-6,414,466
hg38	chr11:6,393,235-6,393,236

HGVS

SMPD1

Type	Transcript	Protein
RefSeq	NM_000543.4:c.1111_1112delCT	NP_000534.3:p.Leu371PhefsTer19
	NM_001007593.2:c.1111_1112delCT	NP_001007594.2:p.Leu371PhefsTer19
	NM_001318087.1:c.1111_1112delCT	NP_001305016.1:p.Leu371PhefsTer19
Ensemble	ENST00000342245.9:c.1111_1112delCT	ENST00000342245.9:p.Leu371PhefsTer19
	ENST00000527275.5:c.1108_1109delCT	ENST00000527275.5:p.Leu370PhefsTer19

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
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: rs786204514 dbSNP
Genome: hg19
Position: chr11:6,414,465-6,414,466
Variant Type: snv
Reference Allele: CT
Alternative Allele: -

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