chr11:6411790:A>T Detail (hg19) (SMPD1, LOC130005193)

Information

Genome

Assembly Position
hg19 chr11:6,411,790-6,411,790
hg38 chr11:6,390,560-6,390,560 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000543.4:c.-39A>T
NM_001007593.2:c.-39A>T
NM_001318087.1:c.-39A>T
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 Uncertain significance
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
Uncertain significance 2018-01-13 criteria provided, single submitter Niemann-Pick disease, type A germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000543.5(SMPD1):c.-39A>T AND Niemann-Pick disease, type A ClinVar 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
rs767402489 dbSNP
Genome
hg19
Position
chr11:6,411,790-6,411,790
Variant Type
snv
Reference Allele
A
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
5332
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)
72754
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.7489897462682465E-5
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