chr11:6393680:C>G Detail (hg38) (SMPD1)

Information

Genome

Assembly Position
hg19 chr11:6,414,910-6,414,910 View the variant detail on this assembly version.
hg38 chr11:6,393,680-6,393,680

HGVS

Type Transcript Protein
RefSeq NM_000543.4:c.1327C>G NP_000534.3:p.Arg443Gly
NM_001007593.2:c.1327C>G NP_001007594.2:p.Arg443Gly
NM_001318087.1:c.1327C>G NP_001305016.1:p.Arg443Gly
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
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.565 Niemann-Pick disease, type B NA CLINVAR Detail
0.562 Niemann-Pick disease, type A NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET 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
-
Genome
hg38
Position
chr11:6,393,680-6,393,680
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8650
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)
121214
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.7749104888874223E-5
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