ClinVar

NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 21321402 (on Assembly GRCh38)
• Chr14: 21789561 (on Assembly GRCh37)

Preferred name:

NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=)

HGVS:

• NC_000014.9:g.21321402G>A
• NG_008933.1:g.38426G>A
• NM_001377523.1:c.537G>A
• NM_001377948.1:c.537G>A
• NM_001377949.1:c.537G>A
• NM_001377950.1:c.537G>A
• NM_001377951.1:c.39G>A
• NM_020366.4:c.1611G>AMANE SELECT
• NP_001364452.1:p.Gln179=
• NP_001364877.1:p.Gln179=
• NP_001364878.1:p.Gln179=
• NP_001364879.1:p.Gln179=
• NP_001364880.1:p.Gln13=
• NP_065099.3:p.Gln537=
• NP_065099.3:p.Gln537=
• NC_000014.8:g.21789561G>A
• NM_020366.3:c.1611G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1064797181

NCBI 1000 Genomes Browser:

rs1064797181

Molecular consequence:

• NM_001377523.1:c.537G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377948.1:c.537G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377949.1:c.537G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377950.1:c.537G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377951.1:c.39G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020366.4:c.1611G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Functional consequence:

sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]