ClinVar

NM_001034853.2(RPGR):c.3405A>T (p.Ser1135=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38285594 (on Assembly GRCh38)
• ChrX: 38144847 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.3405A>T (p.Ser1135=)

HGVS:

• NC_000023.11:g.38285594T>A
• NG_009553.1:g.46942A>T
• NM_000328.3:c.1905+1500A>T
• NM_001034853.2:c.3405A>TMANE SELECT
• NM_001367245.1:c.1902+1500A>T
• NM_001367246.1:c.1719+1500A>T
• NM_001367247.1:c.1572+5365A>T
• NM_001367248.1:c.1602+5365A>T
• NM_001367249.1:c.1569+5365A>T
• NM_001367250.1:c.1569+5365A>T
• NM_001367251.1:c.1386+5365A>T
• NP_001030025.1:p.Ser1135=
• NC_000023.10:g.38144847T>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000328.3:c.1905+1500A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367245.1:c.1902+1500A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367246.1:c.1719+1500A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367247.1:c.1572+5365A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367248.1:c.1602+5365A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367249.1:c.1569+5365A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367250.1:c.1569+5365A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367251.1:c.1386+5365A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001034853.2:c.3405A>T - synonymous variant - [Sequence Ontology: SO:0001819]