ClinVar

NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)

Gene:

FAM161A:FAM161 centrosomal protein A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p15

Genomic location:

• Chr2: 61839695 (on Assembly GRCh38)
• Chr2: 62066830 (on Assembly GRCh37)

Preferred name:

NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)

HGVS:

• NC_000002.12:g.61839695T>A
• NG_028125.1:g.19449A>T
• NM_001201543.2:c.1309A>TMANE SELECT
• NM_032180.3:c.1309A>T
• NP_001188472.1:p.Arg437Ter
• NP_115556.2:p.Arg437Ter
• NC_000002.11:g.62066830T>A
• NM_001201543.1:c.1309A>T
• NM_032180.2:c.1309A>T
• NP_115556.2:p.Arg437*
• NR_037710.2:n.1272A>T

This HGVS expression did not pass validation

Protein change:

R437*; ARG437TER

Links:

OMIM: 613596.0002; dbSNP: rs200691042

NCBI 1000 Genomes Browser:

rs200691042

Molecular consequence:

• NR_037710.2:n.1272A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001201543.2:c.1309A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_032180.3:c.1309A>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1