ClinVar

NM_017565.4(FAM20A):c.*210G>A

Genes:

FAM20A:FAM20A golgi associated secretory pathway pseudokinase [Gene - OMIM - HGNC]
PRKAR1A:protein kinase cAMP-dependent type I regulatory subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.2

Genomic location:

• Chr17: 68537267 (on Assembly GRCh38)
• Chr17: 66533408 (on Assembly GRCh37)

Preferred name:

NM_017565.4(FAM20A):c.*210G>A

HGVS:

• NC_000017.11:g.68537267C>T
• NG_007093.3:g.128645C>T
• NG_029809.1:g.68688G>A
• NM_001243746.2:c.*210G>A
• NM_001276290.1:c.973+7266C>T
• NM_017565.4:c.*210G>AMANE SELECT
• LRG_514:g.128645C>T
• NC_000017.10:g.66533408C>T
• NR_027751.2:n.1551G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2286554

NCBI 1000 Genomes Browser:

rs2286554

Molecular consequence:

• NM_001243746.2:c.*210G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_017565.4:c.*210G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001276290.1:c.973+7266C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_027751.2:n.1551G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]