ClinVar

NM_001105247.2(ARMC5):c.439A>G (p.Thr147Ala)

Genes:

LOC130058906:ATAC-STARR-seq lymphoblastoid silent region 7419 [Gene]
ARMC5:armadillo repeat containing 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 31459963 (on Assembly GRCh38)
• Chr16: 31471284 (on Assembly GRCh37)

Preferred name:

NM_001105247.2(ARMC5):c.439A>G (p.Thr147Ala)

HGVS:

• NC_000016.10:g.31459963A>G
• NG_034258.1:g.6691A>G
• NM_001105247.2:c.439A>GMANE SELECT
• NM_001288767.1:c.724A>G
• NM_001288767.2:c.724A>G
• NM_001301820.1:c.535A>G
• NM_024742.2:c.439A>G
• NP_001098717.1:p.Thr147Ala
• NP_001275696.1:p.Thr242Ala
• NP_001288749.1:p.Thr179Ala
• NP_079018.1:p.Thr147Ala
• NC_000016.9:g.31471284A>G
• NM_001105247.1:c.439A>G

This HGVS expression did not pass validation

Protein change:

T147A

Links:

dbSNP: rs374754128

NCBI 1000 Genomes Browser:

rs374754128

Molecular consequence:

• NM_001105247.2:c.439A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288767.2:c.724A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001301820.1:c.535A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_024742.2:c.439A>G - missense variant - [Sequence Ontology: SO:0001583]