ClinVar

NM_001034853.2(RPGR):c.1573-8A>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38288049 (on Assembly GRCh38)
• ChrX: 38147302 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.1573-8A>G

HGVS:

• NC_000023.11:g.38288049T>C
• NG_009553.1:g.44487A>G
• NM_000328.3:c.1573-8A>G
• NM_001034853.2:c.1573-8A>GMANE SELECT
• NM_001367245.1:c.1570-8A>G
• NM_001367246.1:c.1387-8A>G
• NM_001367247.1:c.1572+2910A>G
• NM_001367248.1:c.1602+2910A>G
• NM_001367249.1:c.1569+2910A>G
• NM_001367250.1:c.1569+2910A>G
• NM_001367251.1:c.1386+2910A>G
• NC_000023.10:g.38147302T>C
• NM_000328.2:c.1573-8A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs62635011

NCBI 1000 Genomes Browser:

rs62635011

Molecular consequence:

• NM_000328.3:c.1573-8A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001034853.2:c.1573-8A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367245.1:c.1570-8A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367246.1:c.1387-8A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367247.1:c.1572+2910A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367248.1:c.1602+2910A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367249.1:c.1569+2910A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367250.1:c.1569+2910A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367251.1:c.1386+2910A>G - intron variant - [Sequence Ontology: SO:0001627]