ClinVar

NM_001034853.2(RPGR):c.2930G>T (p.Gly977Val)

Gene:

RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38286069 (on Assembly GRCh38)
• ChrX: 38145322 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.2930G>T (p.Gly977Val)

HGVS:

• NC_000023.11:g.38286069C>A
• NG_009553.1:g.46467G>T
• NM_000328.3:c.1905+1025G>T
• NM_001034853.2:c.2930G>TMANE SELECT
• NM_001367245.1:c.1902+1025G>T
• NM_001367246.1:c.1719+1025G>T
• NM_001367247.1:c.1572+4890G>T
• NM_001367248.1:c.1602+4890G>T
• NM_001367249.1:c.1569+4890G>T
• NM_001367250.1:c.1569+4890G>T
• NM_001367251.1:c.1386+4890G>T
• NP_001030025.1:p.Gly977Val
• NC_000023.10:g.38145322C>A
• NM_001034853.1:c.2930G>T

This HGVS expression did not pass validation

Protein change:

G977V

Links:

dbSNP: rs1234506102

NCBI 1000 Genomes Browser:

rs1234506102

Molecular consequence:

• NM_000328.3:c.1905+1025G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367245.1:c.1902+1025G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367246.1:c.1719+1025G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367247.1:c.1572+4890G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367248.1:c.1602+4890G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367249.1:c.1569+4890G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367250.1:c.1569+4890G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367251.1:c.1386+4890G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001034853.2:c.2930G>T - missense variant - [Sequence Ontology: SO:0001583]