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NM_000520.6(HEXA):c.959GAG[1] (p.Gly321del)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Apr 1, 1992
Accession:
VCV000003921.1
Variation ID:
3921
Description:
3bp microsatellite
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NM_000520.6(HEXA):c.959GAG[1] (p.Gly321del)

Allele ID
18960
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
15q23
Genomic location
15: 72349101-72349103 (GRCh38) GRCh38 UCSC
15: 72641442-72641444 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.72349102TCC[1]
NM_001318825.2:c.992GAG[1] NP_001305754.1:p.Gly332del
NR_134869.3:n.1001GAG[1]
... more HGVS
Protein change
G321del, G332del
Other names
GGA DEL, CODON 320 OR CODON 321
Canonical SPDI
NC_000015.10:72349100:CTCCTCC:CTCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA212811
OMIM: 606869.0034
dbSNP: rs797044434
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Apr 1, 1992 RCV000004127.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HEXA - - GRCh38
GRCh37
484 511

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 01, 1992)
no assertion criteria provided
Method: literature only
TAY-SACHS DISEASE, B1 VARIANT
Allele origin: germline
OMIM
Accession: SCV000024293.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. Mules EH American journal of human genetics 1992 PMID: 1532289

Text-mined citations for rs797044434...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021