ClinVar

NM_001034853.2(RPGR):c.3402A>C (p.Pro1134=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38285597 (on Assembly GRCh38)
• ChrX: 38144850 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.3402A>C (p.Pro1134=)

HGVS:

• NC_000023.11:g.38285597T>G
• NG_009553.1:g.46939A>C
• NM_000328.3:c.1905+1497A>C
• NM_001034853.2:c.3402A>CMANE SELECT
• NM_001367245.1:c.1902+1497A>C
• NM_001367246.1:c.1719+1497A>C
• NM_001367247.1:c.1572+5362A>C
• NM_001367248.1:c.1602+5362A>C
• NM_001367249.1:c.1569+5362A>C
• NM_001367250.1:c.1569+5362A>C
• NM_001367251.1:c.1386+5362A>C
• NP_001030025.1:p.Pro1134=
• NC_000023.10:g.38144850T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs199602213

NCBI 1000 Genomes Browser:

rs199602213

Molecular consequence:

• NM_000328.3:c.1905+1497A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367245.1:c.1902+1497A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367246.1:c.1719+1497A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367247.1:c.1572+5362A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367248.1:c.1602+5362A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367249.1:c.1569+5362A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367250.1:c.1569+5362A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367251.1:c.1386+5362A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001034853.2:c.3402A>C - synonymous variant - [Sequence Ontology: SO:0001819]