ClinVar

NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38285681 - 38285682 (on Assembly GRCh38)
• ChrX: 38144934 - 38144935 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs)

HGVS:

• NC_000023.11:g.38285688dup
• NG_009553.1:g.46854dup
• NM_000328.3:c.1905+1406dup
• NM_001034853.2:c.3317dupMANE SELECT
• NM_001367245.1:c.1902+1406dup
• NM_001367246.1:c.1719+1406dup
• NM_001367247.1:c.1572+5271dup
• NM_001367248.1:c.1602+5271dup
• NM_001367249.1:c.1569+5271dup
• NM_001367250.1:c.1569+5271dup
• NM_001367251.1:c.1386+5271dup
• NP_001030025.1:p.Ser1107fs
• NC_000023.10:g.38144934_38144935insT
• NC_000023.10:g.38144941dup
• NM_001034853.1:c.3317dup
• NM_001034853.1:c.3317dupA

This HGVS expression did not pass validation

Protein change:

S1107fs

Links:

dbSNP: rs886041376

NCBI 1000 Genomes Browser:

rs886041376

Molecular consequence:

• NM_001034853.2:c.3317dup - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_000328.3:c.1905+1406dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367245.1:c.1902+1406dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367246.1:c.1719+1406dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367247.1:c.1572+5271dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367248.1:c.1602+5271dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367249.1:c.1569+5271dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367250.1:c.1569+5271dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367251.1:c.1386+5271dup - intron variant - [Sequence Ontology: SO:0001627]