ClinVar

NM_012199.5(AGO1):c.2122C>T (p.Arg708Cys)

Gene:

AGO1:argonaute RISC component 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.3

Genomic location:

• Chr1: 35917686 (on Assembly GRCh38)
• Chr1: 36383287 (on Assembly GRCh37)

Preferred name:

NM_012199.5(AGO1):c.2122C>T (p.Arg708Cys)

HGVS:

• NC_000001.11:g.35917686C>T
• NM_001317122.2:c.2122C>T
• NM_001317123.2:c.1897C>T
• NM_012199.5:c.2122C>TMANE SELECT
• NP_001304051.1:p.Arg708Cys
• NP_001304052.1:p.Arg633Cys
• NP_036331.1:p.Arg708Cys
• NC_000001.10:g.36383287C>T
• NM_012199.3:c.2122C>T

This HGVS expression did not pass validation

Protein change:

R633C

Links:

dbSNP: rs2148725216

NCBI 1000 Genomes Browser:

rs2148725216

Molecular consequence:

• NM_001317122.2:c.2122C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317123.2:c.1897C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012199.5:c.2122C>T - missense variant - [Sequence Ontology: SO:0001583]