1:226109695-226109696 AC > -

Classification

Category 2 frameshift
CMH MAF 2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

gene: PYCR2 synonym(s): P5CR2, PYCR2, ENSG00000143811

OMIM
OMIM:616406: PYCR2
OMIM:616420: Leukodystrophy, hypomyelinating, 10

NM_013328.3 [CDS]
hgvs_c: NM_013328.3:c.402_403del
reference AA: VY
variant AA: VX
reference codon: gtGTac
variant codon: gtac
cDNA pos: 632
CDS pos: 402
translation impact: frameshift
protein sequence: NP_037460.2
AA pos: 134
hgvs_p: NP_037460.2:p.Tyr135ArgfsTer26
blosum: 4