ClinVar

NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38285626 (on Assembly GRCh38)
• ChrX: 38144879 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter)

HGVS:

• NC_000023.11:g.38285626G>A
• NG_009553.1:g.46910C>T
• NM_000328.3:c.1905+1468C>T
• NM_001034853.2:c.3373C>TMANE SELECT
• NM_001367245.1:c.1902+1468C>T
• NM_001367246.1:c.1719+1468C>T
• NM_001367247.1:c.1572+5333C>T
• NM_001367248.1:c.1602+5333C>T
• NM_001367249.1:c.1569+5333C>T
• NM_001367250.1:c.1569+5333C>T
• NM_001367251.1:c.1386+5333C>T
• NP_001030025.1:p.Gln1125Ter
• NC_000023.10:g.38144879G>A
• NM_001034853.1:c.3373C>T

This HGVS expression did not pass validation

Protein change:

Q1125*

Links:

dbSNP: rs1601917052

NCBI 1000 Genomes Browser:

rs1601917052

Molecular consequence:

• NM_000328.3:c.1905+1468C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367245.1:c.1902+1468C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367246.1:c.1719+1468C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367247.1:c.1572+5333C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367248.1:c.1602+5333C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367249.1:c.1569+5333C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367250.1:c.1569+5333C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367251.1:c.1386+5333C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001034853.2:c.3373C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

2