ClinVar

NM_001034853.2(RPGR):c.3285G>A (p.Val1095=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38285714 (on Assembly GRCh38)
• ChrX: 38144967 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.3285G>A (p.Val1095=)

HGVS:

• NC_000023.11:g.38285714C>T
• NG_009553.1:g.46822G>A
• NM_000328.3:c.1905+1380G>A
• NM_001034853.2:c.3285G>AMANE SELECT
• NM_001367245.1:c.1902+1380G>A
• NM_001367246.1:c.1719+1380G>A
• NM_001367247.1:c.1572+5245G>A
• NM_001367248.1:c.1602+5245G>A
• NM_001367249.1:c.1569+5245G>A
• NM_001367250.1:c.1569+5245G>A
• NM_001367251.1:c.1386+5245G>A
• NP_001030025.1:p.Val1095=
• NC_000023.10:g.38144967C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1601917276

NCBI 1000 Genomes Browser:

rs1601917276

Molecular consequence:

• NM_000328.3:c.1905+1380G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367245.1:c.1902+1380G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367246.1:c.1719+1380G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367247.1:c.1572+5245G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367248.1:c.1602+5245G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367249.1:c.1569+5245G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367250.1:c.1569+5245G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367251.1:c.1386+5245G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001034853.2:c.3285G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1