ClinVar

NM_001105247.2(ARMC5):c.969C>T (p.Gly323=)

Gene:

ARMC5:armadillo repeat containing 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 31462516 (on Assembly GRCh38)
• Chr16: 31473837 (on Assembly GRCh37)

Preferred name:

NM_001105247.2(ARMC5):c.969C>T (p.Gly323=)

HGVS:

• NC_000016.10:g.31462516C>T
• NG_034258.1:g.9244C>T
• NM_001105247.2:c.969C>TMANE SELECT
• NM_001288767.1:c.1254C>T
• NM_001288767.2:c.1254C>T
• NM_001301820.1:c.1065C>T
• NM_024742.2:c.969C>T
• NP_001098717.1:p.Gly323=
• NP_001275696.1:p.Gly418=
• NP_001288749.1:p.Gly355=
• NP_079018.1:p.Gly323=
• NC_000016.9:g.31473837C>T
• NM_001105247.1:c.969C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs190300567

NCBI 1000 Genomes Browser:

rs190300567

Molecular consequence:

• NM_001105247.2:c.969C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288767.2:c.1254C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001301820.1:c.1065C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024742.2:c.969C>T - synonymous variant - [Sequence Ontology: SO:0001819]