ClinVar

NM_020366.4(RPGRIP1):c.2869G>A (p.Glu957Lys)

Gene:

RPGRIP1:RPGR interacting protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 21327781 (on Assembly GRCh38)
• Chr14: 21795940 (on Assembly GRCh37)

Preferred name:

NM_020366.4(RPGRIP1):c.2869G>A (p.Glu957Lys)

HGVS:

• NC_000014.9:g.21327781G>A
• NG_008933.1:g.44805G>A
• NM_001377523.1:c.847G>A
• NM_001377948.1:c.1795G>A
• NM_001377949.1:c.955G>A
• NM_001377950.1:c.847G>A
• NM_001377951.1:c.349G>A
• NM_020366.4:c.2869G>AMANE SELECT
• NP_001364452.1:p.Glu283Lys
• NP_001364877.1:p.Glu599Lys
• NP_001364878.1:p.Glu319Lys
• NP_001364879.1:p.Glu283Lys
• NP_001364880.1:p.Glu117Lys
• NP_065099.3:p.Glu957Lys
• NC_000014.8:g.21795940G>A

This HGVS expression did not pass validation

Protein change:

E117K

Links:

dbSNP: rs199589566

NCBI 1000 Genomes Browser:

rs199589566

Molecular consequence:

• NM_001377523.1:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377948.1:c.1795G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377949.1:c.955G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377950.1:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377951.1:c.349G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020366.4:c.2869G>A - missense variant - [Sequence Ontology: SO:0001583]