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NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) AND Microphthalmia, isolated, with coloboma 3

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 27, 2019
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:
RCV001330573.1

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:
Microphthalmia, isolated, with coloboma 3 (MCOPCB3)
Synonyms:
MICROPHTHALMIA/COLOBOMA 3; MICROPHTHALMIA, COLOBOMATOUS, 3
Identifiers:
MONDO: MONDO:0012408; MedGen: C1864721; Orphanet: 98938; OMIM: 610092

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001522294Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Sep 27, 2019)
unknownclinical testing

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

Last Updated: Oct 13, 2024

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