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NM_182894.3(VSX2):c.*579C>T AND not provided

Germline classification:
Benign (1 submission)
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV004714845.1

Allele description [Variation Report for NM_182894.3(VSX2):c.*579C>T]

NM_182894.3(VSX2):c.*579C>T

Gene:
VSX2:visual system homeobox 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_182894.3(VSX2):c.*579C>T
HGVS:
  • NC_000014.9:g.74261498C>T
  • NG_013092.1:g.27027C>T
  • NM_182894.3:c.*579C>TMANE SELECT
  • NC_000014.8:g.74728201C>T
  • NM_182894.2:c.*579C>T
Links:
dbSNP: rs12588074
NCBI 1000 Genomes Browser:
rs12588074
Molecular consequence:
  • NM_182894.3:c.*579C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005292155Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlinenot provided

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

Last Updated: Sep 29, 2024

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