13:100953719-100953719 G > T

Classification

Category 1 curation
CMH MAF 2 / 14969 samples (0.0134%)
0 het., 2 hom. (0%)
4 / 29938 total alleles (0.0134%)

gene: PCCA synonym(s): PCCA, ENSG00000175198

OMIM
OMIM:232000: PCCA (Autosomal recessive inheritance)
OMIM:606054: Propionicacidemia

NM_000282.3 [CDS]
hgvs_c: NM_000282.3:c.1071G>T
reference AA: E
variant AA: D
reference codon: gaG
variant codon: gaT
cDNA pos: 1177
CDS pos: 1071
translation impact: non_synonymous
protein sequence: NP_000273.2
AA pos: 357
hgvs_p: NP_000273.2:p.Glu357Asp
blosum: 2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)

rs761295534
TOPMED_MAF = 0.00002389143730886

235532
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Propionyl-CoA carboxylase deficiency

gnomAD America/Latino, (1 / 34590), 0.00289% curated_classification = 1