ClinVar

NM_020366.4(RPGRIP1):c.2019G>A (p.Gln673=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 21324874 (on Assembly GRCh38)
• Chr14: 21793033 (on Assembly GRCh37)

Preferred name:

NM_020366.4(RPGRIP1):c.2019G>A (p.Gln673=)

HGVS:

• NC_000014.9:g.21324874G>A
• NG_008933.1:g.41898G>A
• NM_001377523.1:c.689-2749G>A
• NM_001377948.1:c.945G>A
• NM_001377949.1:c.796+149G>A
• NM_001377950.1:c.689-2749G>A
• NM_001377951.1:c.191-2749G>A
• NM_020366.4:c.2019G>AMANE SELECT
• NP_001364877.1:p.Gln315=
• NP_065099.3:p.Gln673=
• NC_000014.8:g.21793033G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2139228327

NCBI 1000 Genomes Browser:

rs2139228327

Molecular consequence:

• NM_001377523.1:c.689-2749G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377949.1:c.796+149G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377950.1:c.689-2749G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377951.1:c.191-2749G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377948.1:c.945G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020366.4:c.2019G>A - synonymous variant - [Sequence Ontology: SO:0001819]