chr6:31860588:C>T Detail (hg38) (NEU1)

Information

Genome

Assembly Position
hg19 chr6:31,828,365-31,828,365 View the variant detail on this assembly version.
hg38 chr6:31,860,588-31,860,588

HGVS

Type Transcript Protein
RefSeq NM_000434.3:c.649G>A NP_000425.1:p.Val217Met
Ensemble ENST00000375631.5:c.649G>A ENST00000375631.5:p.Val217Met
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 608272 OMIM
HGNC 7758 HGNC
Ensembl ENSG00000204386 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv259840178 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2000-01-01 no assertion criteria provided Sialidosis type 1 germline Detail
Pathogenic Likely pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2023-12-13 criteria provided, single submitter Sialidosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Sialidosis, Type I NA CLINVAR Detail
0.367 mucopolysaccharidosis type IVB Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.126 Type I Mucolipidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.003 Type I Mucolipidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.001 galactosialidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.567 galactosialidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.001 Type I Mucolipidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.004 galactosialidosis Apparently normal elastogenesis and EBP mRNA expression were observed for fibrob... BeFree 16538002 Detail
0.321 Neuraminidase 1 deficiency Autopsy findings of a patient, with sialidosis type I phenotype carrying V217M/G... BeFree 19415310 Detail
0.321 Neuraminidase 1 deficiency Molecular and structural studies of Japanese patients with sialidosis type 1. UNIPROT 10944856 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000434.4(NEU1):c.649G>A (p.Val217Met) AND Sialidosis type 1 ClinVar Detail
NM_000434.4(NEU1):c.649G>A (p.Val217Met) AND not provided ClinVar Detail
NM_000434.4(NEU1):c.649G>A (p.Val217Met) AND Sialidosis ClinVar Detail
NA DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B... DisGeNET Detail
Autopsy findings of a patient, with sialidosis type I phenotype carrying V217M/G243R mutations in th... DisGeNET Detail
Molecular and structural studies of Japanese patients with sialidosis type 1. 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
rs28940583 dbSNP
Genome
hg38
Position
chr6:31,860,588-31,860,588
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8608
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)
120478
Allele Counts in All Race (ExAC)
11
Heterozygous Counts in All Race (ExAC)
11
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.130297647703316E-5
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