ClinVar

NM_001034853.2(RPGR):c.778+3A>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38310612 (on Assembly GRCh38)
• ChrX: 38169865 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.778+3A>T

HGVS:

• NC_000023.11:g.38310612T>A
• NG_009553.1:g.21924A>T
• NM_000328.3:c.778+3A>T
• NM_001034853.2:c.778+3A>TMANE SELECT
• NM_001367245.1:c.775+3A>T
• NM_001367246.1:c.778+3A>T
• NM_001367247.1:c.778+3A>T
• NM_001367248.1:c.808+3A>T
• NM_001367249.1:c.775+3A>T
• NM_001367250.1:c.775+3A>T
• NM_001367251.1:c.778+3A>T
• NC_000023.10:g.38169865T>A
• NM_001034853.1:c.778+3A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1218824822

NCBI 1000 Genomes Browser:

rs1218824822

Molecular consequence:

• NM_000328.3:c.778+3A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001034853.2:c.778+3A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367245.1:c.775+3A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367246.1:c.778+3A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367247.1:c.778+3A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367248.1:c.808+3A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367249.1:c.775+3A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367250.1:c.775+3A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367251.1:c.778+3A>T - intron variant - [Sequence Ontology: SO:0001627]