ClinVar

NM_001034853.2(RPGR):c.3219C>T (p.Gly1073=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38285780 (on Assembly GRCh38)
• ChrX: 38145033 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.3219C>T (p.Gly1073=)

HGVS:

• NC_000023.11:g.38285780G>A
• NG_009553.1:g.46756C>T
• NM_000328.3:c.1905+1314C>T
• NM_001034853.2:c.3219C>TMANE SELECT
• NM_001367245.1:c.1902+1314C>T
• NM_001367246.1:c.1719+1314C>T
• NM_001367247.1:c.1572+5179C>T
• NM_001367248.1:c.1602+5179C>T
• NM_001367249.1:c.1569+5179C>T
• NM_001367250.1:c.1569+5179C>T
• NM_001367251.1:c.1386+5179C>T
• NP_001030025.1:p.Gly1073=
• NC_000023.10:g.38145033G>A
• NM_001034853.1:c.3219C>T
• p.Gly1073Gly

This HGVS expression did not pass validation

Links:

dbSNP: rs111787313

NCBI 1000 Genomes Browser:

rs111787313

Molecular consequence:

• NM_000328.3:c.1905+1314C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367245.1:c.1902+1314C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367246.1:c.1719+1314C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367247.1:c.1572+5179C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367248.1:c.1602+5179C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367249.1:c.1569+5179C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367250.1:c.1569+5179C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367251.1:c.1386+5179C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001034853.2:c.3219C>T - synonymous variant - [Sequence Ontology: SO:0001819]