ClinVar

NM_001034853.2(RPGR):c.934+1G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38304634 (on Assembly GRCh38)
• ChrX: 38163887 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.934+1G>A

HGVS:

• NC_000023.11:g.38304634C>T
• NG_009553.1:g.27902G>A
• NM_000328.3:c.934+1G>A
• NM_001034853.2:c.934+1G>AMANE SELECT
• NM_001367245.1:c.931+1G>A
• NM_001367246.1:c.934+1G>A
• NM_001367247.1:c.934+1G>A
• NM_001367248.1:c.964+1G>A
• NM_001367249.1:c.931+1G>A
• NM_001367250.1:c.931+1G>A
• NM_001367251.1:c.934+1G>A
• NC_000023.10:g.38163887C>T
• NM_000328.2:c.934+1G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs62640592

NCBI 1000 Genomes Browser:

rs62640592

Molecular consequence:

• NM_000328.3:c.934+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001034853.2:c.934+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001367245.1:c.931+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001367246.1:c.934+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001367247.1:c.934+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001367248.1:c.964+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001367249.1:c.931+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001367250.1:c.931+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001367251.1:c.934+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]