ClinVar

NM_012154.5(AGO2):c.1703A>G (p.Asn568Ser)

Gene:

AGO2:argonaute RISC catalytic component 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 140547513 (on Assembly GRCh38)
• Chr8: 141557612 (on Assembly GRCh37)

Preferred name:

NM_012154.5(AGO2):c.1703A>G (p.Asn568Ser)

HGVS:

• NC_000008.11:g.140547513T>C
• NM_001164623.3:c.1703A>G
• NM_012154.5:c.1703A>GMANE SELECT
• NP_001158095.1:p.Asn568Ser
• NP_036286.2:p.Asn568Ser
• NC_000008.10:g.141557612T>C

This HGVS expression did not pass validation

Protein change:

N568S

Molecular consequence:

• NM_001164623.3:c.1703A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_012154.5:c.1703A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1