ClinVar

NM_001201543.2(FAM161A):c.1966A>G (p.Asn656Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p15

Genomic location:

• Chr2: 61827144 (on Assembly GRCh38)
• Chr2: 62054279 (on Assembly GRCh37)

Preferred name:

NM_001201543.2(FAM161A):c.1966A>G (p.Asn656Asp)

HGVS:

• NC_000002.12:g.61827144T>C
• NG_028125.1:g.32000A>G
• NM_001201543.2:c.1966A>GMANE SELECT
• NM_032180.3:c.1798A>G
• NP_001188472.1:p.Asn656Asp
• NP_115556.2:p.Asn600Asp
• NC_000002.11:g.62054279T>C
• NR_037710.2:n.1761A>G

This HGVS expression did not pass validation

Protein change:

N600D

Links:

dbSNP: rs773989386

NCBI 1000 Genomes Browser:

rs773989386

Molecular consequence:

• NM_001201543.2:c.1966A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_032180.3:c.1798A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_037710.2:n.1761A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]