ClinVar

NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 21325903 (on Assembly GRCh38)
• Chr14: 21794062 (on Assembly GRCh37)

Preferred name:

NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)

HGVS:

• NC_000014.9:g.21325903C>T
• NG_008933.1:g.42927C>T
• NM_001377523.1:c.689-1720C>T
• NM_001377948.1:c.1366C>T
• NM_001377949.1:c.796+1178C>T
• NM_001377950.1:c.689-1720C>T
• NM_001377951.1:c.191-1720C>T
• NM_020366.4:c.2440C>TMANE SELECT
• NP_001364877.1:p.Arg456Ter
• NP_065099.3:p.Arg814Ter
• NP_065099.3:p.Arg814Ter
• NC_000014.8:g.21794062C>T
• NM_020366.3:c.2440C>T
• p.(Arg814*)

This HGVS expression did not pass validation

Protein change:

R456*

Links:

dbSNP: rs759940113

NCBI 1000 Genomes Browser:

rs759940113

Molecular consequence:

• NM_001377523.1:c.689-1720C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377949.1:c.796+1178C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377950.1:c.689-1720C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377951.1:c.191-1720C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377948.1:c.1366C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_020366.4:c.2440C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

2