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NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) AND Isolated microphthalmia 2

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Aug 7, 2020
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:
RCV000015987.27

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:
Isolated microphthalmia 2
Identifiers:
MONDO: MONDO:0012409; MedGen: C1864720; Orphanet: 2542; OMIM: 610093

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036254OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2007)
germlineliterature only

PubMed (2)
[]

SCV001469269Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Likely pathogenic
(Aug 7, 2020)
germlineclinical testing

Last Updated: Oct 13, 2024

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