ClinVar

NM_020366.4(RPGRIP1):c.2037C>T (p.Thr679=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 21324892 (on Assembly GRCh38)
• Chr14: 21793051 (on Assembly GRCh37)

Preferred name:

NM_020366.4(RPGRIP1):c.2037C>T (p.Thr679=)

HGVS:

• NC_000014.9:g.21324892C>T
• NG_008933.1:g.41916C>T
• NM_001377523.1:c.689-2731C>T
• NM_001377948.1:c.963C>T
• NM_001377949.1:c.796+167C>T
• NM_001377950.1:c.689-2731C>T
• NM_001377951.1:c.191-2731C>T
• NM_020366.4:c.2037C>TMANE SELECT
• NP_001364877.1:p.Thr321=
• NP_065099.3:p.Thr679=
• NP_065099.3:p.Thr679=
• NC_000014.8:g.21793051C>T
• NM_020366.3:c.2037C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs372813238

NCBI 1000 Genomes Browser:

rs372813238

Molecular consequence:

• NM_001377523.1:c.689-2731C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377949.1:c.796+167C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377950.1:c.689-2731C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377951.1:c.191-2731C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377948.1:c.963C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020366.4:c.2037C>T - synonymous variant - [Sequence Ontology: SO:0001819]