ClinVar

NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile)

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: 68537592 (on Assembly GRCh38)
• Chr17: 66533733 (on Assembly GRCh37)

Preferred name:

NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile)

HGVS:

• NC_000017.11:g.68537592G>A
• NG_007093.3:g.128970G>A
• NG_029809.1:g.68363C>T
• NM_001243746.2:c.1097C>T
• NM_001276290.1:c.973+7591G>A
• NM_017565.4:c.1511C>TMANE SELECT
• NP_001230675.1:p.Thr366Ile
• NP_060035.2:p.Thr504Ile
• LRG_514:g.128970G>A
• NC_000017.10:g.66533733G>A
• NM_017565.3:c.1511C>T
• NR_027751.2:n.1226C>T

This HGVS expression did not pass validation

Protein change:

T366I

Links:

dbSNP: rs146689929

NCBI 1000 Genomes Browser:

rs146689929

Molecular consequence:

• NM_001276290.1:c.973+7591G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001243746.2:c.1097C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017565.4:c.1511C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027751.2:n.1226C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]