NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) AND Tay-Sachs disease

Clinical significance:Pathogenic (Last evaluated: Sep 1, 1991)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000004114.2

Allele description [Variation Report for NM_000520.6(HEXA):c.629C>T (p.Ser210Phe)]

NM_000520.6(HEXA):c.629C>T (p.Ser210Phe)

Gene:
HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe)
HGVS:
  • NC_000015.10:g.72351176G>A
  • NG_009017.1:g.30004C>T
  • NG_009017.2:g.30004C>T
  • NM_000520.6:c.629C>TMANE SELECT
  • NM_001318825.2:c.662C>T
  • NP_000511.2:p.Ser210Phe
  • NP_001305754.1:p.Ser221Phe
  • NC_000015.9:g.72643517G>A
  • NR_134869.2:n.671C>T
  • P06865:p.Ser210Phe
Protein change:
S210F; SER210PHE
Links:
UniProtKB: P06865#VAR_003217; OMIM: 606869.0017; dbSNP: rs121907961
NCBI 1000 Genomes Browser:
rs121907961
Molecular consequence:
  • NM_000520.6:c.629C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318825.2:c.662C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134869.2:n.671C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Tay-Sachs disease (TSD)
Synonyms:
GM2 gangliosidosis, type 1; HexA deficiency; Hexosaminidase alpha-subunit deficiency (variant B); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010100; MedGen: C0039373; Orphanet: 845; OMIM: 272800

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000024280OMIMno assertion criteria providedPathogenic
(Sep 1, 1991)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.

Akli S, Chelly J, Lacorte JM, Poenaru L, Kahn A.

Genomics. 1991 Sep;11(1):124-34.

PubMed [citation]
PMID:
1837283

Details of each submission

From OMIM, SCV000024280.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Using chemical mismatch cleavage of PCR-amplified cDNA fragments, Akli et al. (1991) demonstrated a missense mutation that altered the codon for serine-210 to phenylalanine in exon 6.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center