ClinVar

NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 21327790 (on Assembly GRCh38)
• Chr14: 21795949 (on Assembly GRCh37)

Preferred name:

NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro)

HGVS:

• NC_000014.9:g.21327790G>C
• NG_008933.1:g.44814G>C
• NM_001377523.1:c.856G>C
• NM_001377948.1:c.1804G>C
• NM_001377949.1:c.964G>C
• NM_001377950.1:c.856G>C
• NM_001377951.1:c.358G>C
• NM_020366.4:c.2878G>CMANE SELECT
• NP_001364452.1:p.Ala286Pro
• NP_001364877.1:p.Ala602Pro
• NP_001364878.1:p.Ala322Pro
• NP_001364879.1:p.Ala286Pro
• NP_001364880.1:p.Ala120Pro
• NP_065099.3:p.Ala960Pro
• NP_065099.3:p.Ala960Pro
• NC_000014.8:g.21795949G>C
• NM_020366.3:c.2878G>C

This HGVS expression did not pass validation

Protein change:

A120P

Links:

dbSNP: rs35810926

NCBI 1000 Genomes Browser:

rs35810926

Molecular consequence:

• NM_001377523.1:c.856G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377948.1:c.1804G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377949.1:c.964G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377950.1:c.856G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377951.1:c.358G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_020366.4:c.2878G>C - missense variant - [Sequence Ontology: SO:0001583]