ClinVar

NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p15

Genomic location:

• Chr2: 61839851 (on Assembly GRCh38)
• Chr2: 62066986 (on Assembly GRCh37)

Preferred name:

NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)

HGVS:

• NC_000002.12:g.61839851G>C
• NG_028125.1:g.19293C>G
• NM_001201543.2:c.1153C>GMANE SELECT
• NM_032180.3:c.1153C>G
• NP_001188472.1:p.Gln385Glu
• NP_115556.2:p.Gln385Glu
• NC_000002.11:g.62066986G>C
• NM_001201543.1:c.1153C>G
• NM_032180.2:c.1153C>G
• NR_037710.2:n.1116C>G

This HGVS expression did not pass validation

Protein change:

Q385E

Links:

dbSNP: rs139266382

NCBI 1000 Genomes Browser:

rs139266382

Molecular consequence:

• NM_001201543.2:c.1153C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_032180.3:c.1153C>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_037710.2:n.1116C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]