ClinVar

NM_001034853.2(RPGR):c.3371T>A (p.Val1124Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38285628 (on Assembly GRCh38)
• ChrX: 38144881 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.3371T>A (p.Val1124Asp)

HGVS:

• NC_000023.11:g.38285628A>T
• NG_009553.1:g.46908T>A
• NM_000328.3:c.1905+1466T>A
• NM_001034853.2:c.3371T>AMANE SELECT
• NM_001367245.1:c.1902+1466T>A
• NM_001367246.1:c.1719+1466T>A
• NM_001367247.1:c.1572+5331T>A
• NM_001367248.1:c.1602+5331T>A
• NM_001367249.1:c.1569+5331T>A
• NM_001367250.1:c.1569+5331T>A
• NM_001367251.1:c.1386+5331T>A
• NP_001030025.1:p.Val1124Asp
• NC_000023.10:g.38144881A>T

This HGVS expression did not pass validation

Protein change:

V1124D

Molecular consequence:

• NM_000328.3:c.1905+1466T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367245.1:c.1902+1466T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367246.1:c.1719+1466T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367247.1:c.1572+5331T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367248.1:c.1602+5331T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367249.1:c.1569+5331T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367250.1:c.1569+5331T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367251.1:c.1386+5331T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001034853.2:c.3371T>A - missense variant - [Sequence Ontology: SO:0001583]