ClinVar

NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 38285906 - 38285907 (on Assembly GRCh38)
• ChrX: 38145159 - 38145160 (on Assembly GRCh37)

Preferred name:

NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)

Other names:

NC_000023.10:g.38145162_38145163del; NP_001030025.1:p.(Glu1031GlyfsTer47)

HGVS:

• NC_000023.11:g.38285907TC[1]
• NG_009553.1:g.46627AG[1]
• NM_000328.3:c.1905+1187_1905+1188del
• NM_001034853.2:c.3092_3093delMANE SELECT
• NM_001367245.1:c.1902+1187_1902+1188del
• NM_001367246.1:c.1719+1187_1719+1188del
• NM_001367247.1:c.1572+5052_1572+5053del
• NM_001367248.1:c.1602+5052_1602+5053del
• NM_001367249.1:c.1569+5052_1569+5053del
• NM_001367250.1:c.1569+5052_1569+5053del
• NM_001367251.1:c.1386+5052_1386+5053del
• NP_001030025.1:p.Glu1031fs
• NC_000023.10:g.38145159_38145160del
• NC_000023.10:g.38145160TC[1]
• NC_000023.11:g.38285906_38285907delCT
• NM_001034853.1:c.3092_3093del

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMed 11857109 Fig. 1a to determine the location of this allele on the current reference sequence.

Protein change:

E1031fs

Links:

OMIM: 312610.0015; dbSNP: rs606231181

NCBI 1000 Genomes Browser:

rs606231181

Molecular consequence:

• NM_001034853.2:c.3092_3093del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_000328.3:c.1905+1187_1905+1188del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367245.1:c.1902+1187_1902+1188del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367246.1:c.1719+1187_1719+1188del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367247.1:c.1572+5052_1572+5053del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367248.1:c.1602+5052_1602+5053del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367249.1:c.1569+5052_1569+5053del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367250.1:c.1569+5052_1569+5053del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367251.1:c.1386+5052_1386+5053del - intron variant - [Sequence Ontology: SO:0001627]