ClinVar

NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 21326017 (on Assembly GRCh38)
• Chr14: 21794176 (on Assembly GRCh37)

Preferred name:

NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)

HGVS:

• NC_000014.9:g.21326017C>T
• NG_008933.1:g.43041C>T
• NM_001377523.1:c.689-1606C>T
• NM_001377948.1:c.1480C>T
• NM_001377949.1:c.796+1292C>T
• NM_001377950.1:c.689-1606C>T
• NM_001377951.1:c.191-1606C>T
• NM_020366.4:c.2554C>TMANE SELECT
• NP_001364877.1:p.Arg494Ter
• NP_065099.3:p.Arg852Ter
• NP_065099.3:p.Arg852Ter
• NC_000014.8:g.21794176C>T
• NM_020366.3:c.2554C>T

This HGVS expression did not pass validation

Protein change:

R494*

Links:

dbSNP: rs1429786931

NCBI 1000 Genomes Browser:

rs1429786931

Molecular consequence:

• NM_001377523.1:c.689-1606C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377949.1:c.796+1292C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377950.1:c.689-1606C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377951.1:c.191-1606C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377948.1:c.1480C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_020366.4:c.2554C>T - nonsense - [Sequence Ontology: SO:0001587]