ClinVar

NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 21325839 (on Assembly GRCh38)
• Chr14: 21793998 (on Assembly GRCh37)

Preferred name:

NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=)

HGVS:

• NC_000014.9:g.21325839G>A
• NG_008933.1:g.42863G>A
• NM_001377523.1:c.689-1784G>A
• NM_001377948.1:c.1302G>A
• NM_001377949.1:c.796+1114G>A
• NM_001377950.1:c.689-1784G>A
• NM_001377951.1:c.191-1784G>A
• NM_020366.4:c.2376G>AMANE SELECT
• NP_001364877.1:p.Ser434=
• NP_065099.3:p.Ser792=
• NP_065099.3:p.Ser792=
• NC_000014.8:g.21793998G>A
• NM_020366.3:c.2376G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs185667326

Molecular consequence:

• NM_001377523.1:c.689-1784G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377949.1:c.796+1114G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377950.1:c.689-1784G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377951.1:c.191-1784G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377948.1:c.1302G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020366.4:c.2376G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1