ClinVar

NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38285808 - 38285810 (on Assembly GRCh38)
• ChrX: 38145061 - 38145063 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)

HGVS:

• NC_000023.11:g.38285810CTC[2]
• NG_009553.1:g.46720GGA[2]
• NM_000328.3:c.1905+1278GGA[2]
• NM_001034853.2:c.3183GGA[2]MANE SELECT
• NM_001367245.1:c.1902+1278GGA[2]
• NM_001367246.1:c.1719+1278GGA[2]
• NM_001367247.1:c.1572+5143GGA[2]
• NM_001367248.1:c.1602+5143GGA[2]
• NM_001367249.1:c.1569+5143GGA[2]
• NM_001367250.1:c.1569+5143GGA[2]
• NM_001367251.1:c.1386+5143GGA[2]
• NP_001030025.1:p.Glu1066del
• NC_000023.10:g.38145061_38145063del
• NC_000023.10:g.38145063CTC[2]
• NM_001034853.1:c.3189_3191del
• NM_001034853.1:c.3189_3191delGGA
• NM_001034853.2:c.3189_3191delGGAMANE SELECT

This HGVS expression did not pass validation

Protein change:

E1066del

Links:

dbSNP: rs746535151

NCBI 1000 Genomes Browser:

rs746535151

Molecular consequence:

• NM_001034853.2:c.3183GGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_000328.3:c.1905+1278GGA[2] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367245.1:c.1902+1278GGA[2] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367246.1:c.1719+1278GGA[2] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367247.1:c.1572+5143GGA[2] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367248.1:c.1602+5143GGA[2] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367249.1:c.1569+5143GGA[2] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367250.1:c.1569+5143GGA[2] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367251.1:c.1386+5143GGA[2] - intron variant - [Sequence Ontology: SO:0001627]