chr11:6414506:G>A Detail (hg19) (SMPD1)

Information

Genome

Assembly Position
hg19 chr11:6,414,506-6,414,506
hg38 chr11:6,393,276-6,393,276 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000543.4:c.1152G>A NP_000534.3:p.Met384Ile
NM_001007593.2:c.1152G>A NP_001007594.2:p.Met384Ile
NM_001318087.1:c.1152G>A NP_001305016.1:p.Met384Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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 2010-03-11 no assertion criteria provided Niemann-Pick disease, type A germline Detail
Pathogenic 2017-03-03 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 Niemann-Pick disease, type A NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile) AND Niemann-Pick disease, type A ClinVar Detail
NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile) AND not provided 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
rs120074121 dbSNP
Genome
hg19
Position
chr11:6,414,506-6,414,506
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser