chr11:6393985:C>T Detail (hg38) (SMPD1)

Information

Genome

Assembly Position
hg19 chr11:6,415,215-6,415,215 View the variant detail on this assembly version.
hg38 chr11:6,393,985-6,393,985

HGVS

Type Transcript Protein
RefSeq NM_000543.4:c.1430C>T NP_000534.3:p.Pro477Leu
NM_001007593.2:c.1430C>T NP_001007594.2:p.Pro477Leu
NM_001318087.1:c.1430C>T NP_001305016.1:p.Pro477Leu
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 Pathogenic Likely 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 Likely pathogenic 2023-06-21 criteria provided, multiple submitters, no conflicts Niemann-Pick disease, type A germline unknown Detail
Likely pathogenic 2021-08-10 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-11-24 criteria provided, single submitter Niemann-Pick disease, type A,Niemann-Pick disease, type B germline Detail
Pathogenic 2023-11-24 criteria provided, single submitter Niemann-Pick disease, type A,Niemann-Pick disease, type B germline Detail
Pathogenic 2020-01-22 criteria provided, single submitter Sphingomyelin/cholesterol lipidosis 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.1430C>T (p.Pro477Leu) AND Niemann-Pick disease, type A ClinVar Detail
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) AND not provided ClinVar Detail
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) AND multiple conditions ClinVar Detail
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) AND multiple conditions ClinVar Detail
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) AND Sphingomyelin/cholesterol lipidosis 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
rs753508874 dbSNP
Genome
hg38
Position
chr11:6,393,985-6,393,985
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
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)
121370
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)
1.647853670594051E-5
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