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NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) AND VSX2-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 28, 2024
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:
RCV004755737.1

Allele description [Variation Report for NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)]

NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)

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.599G>C (p.Arg200Pro)
HGVS:
  • NC_000014.9:g.74259621G>C
  • NG_013092.1:g.25150G>C
  • NM_182894.3:c.599G>CMANE SELECT
  • NP_878314.1:p.Arg200Pro
  • NC_000014.8:g.74726324G>C
  • NM_182894.2:c.599G>C
  • P58304:p.Arg200Pro
...more
Protein change:
R200P; ARG200PRO
Links:
UniProtKB: P58304#VAR_011618; OMIM: 142993.0002; dbSNP: rs121912543
NCBI 1000 Genomes Browser:
rs121912543
Molecular consequence:
  • NM_182894.3:c.599G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
VSX2-related disorder
Synonyms:
VSX2-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005360103PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(May 28, 2024)
germlineclinical testing

Last Updated: Oct 13, 2024

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