ClinVar

NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38286070 (on Assembly GRCh38)
• ChrX: 38145323 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter)

Other names:

G392*

HGVS:

• NC_000023.11:g.38286070C>A
• NG_009553.1:g.46466G>T
• NM_000328.3:c.1905+1024G>T
• NM_001034853.2:c.2929G>TMANE SELECT
• NM_001367245.1:c.1902+1024G>T
• NM_001367246.1:c.1719+1024G>T
• NM_001367247.1:c.1572+4889G>T
• NM_001367248.1:c.1602+4889G>T
• NM_001367249.1:c.1569+4889G>T
• NM_001367250.1:c.1569+4889G>T
• NM_001367251.1:c.1386+4889G>T
• NP_001030025.1:p.Gly977Ter
• NC_000023.10:g.38145323C>A

This HGVS expression did not pass validation

Protein change:

G977*; GLY392TER

Links:

OMIM: 312610.0022; dbSNP: rs137852551

NCBI 1000 Genomes Browser:

rs137852551

Molecular consequence:

• NM_000328.3:c.1905+1024G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367245.1:c.1902+1024G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367246.1:c.1719+1024G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367247.1:c.1572+4889G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367248.1:c.1602+4889G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367249.1:c.1569+4889G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367250.1:c.1569+4889G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367251.1:c.1386+4889G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001034853.2:c.2929G>T - nonsense - [Sequence Ontology: SO:0001587]