chr11:6415205: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	chr11:6,415,205-6,415,206
hg38	chr11:6,393,975-6,393,976

HGVS

SMPD1

Type	Transcript	Protein
RefSeq	NM_000543.4:c.1420_1421delCT	NP_000534.3:p.Leu474GlufsTer20
	NM_001007593.2:c.1420_1421delCT	NP_001007594.2:p.Leu474GlufsTer20
	NM_001318087.1:c.1420_1421delCT	NP_001305016.1:p.Leu474GlufsTer20
Ensemble	ENST00000342245.9:c.1420_1421delCT	ENST00000342245.9:p.Leu474GlufsTer20
	ENST00000527275.5:c.1417_1418delCT	ENST00000527275.5:p.Leu473GlufsTer20

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
0.565	Niemann-Pick disease, type B	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: rs398123476 dbSNP
Genome: hg19
Position: chr11:6,415,205-6,415,206
Variant Type: snv
Reference Allele: CT
Alternative Allele: -

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