1:22205601-22205601 T > C

Classification

Category 4 curation
CMH MAF 142 / 14969 samples (0.949%)
142 het., 0 hom. (100%)
142 / 29938 total alleles (0.474%)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

gene: HSPG2 synonym(s): HSPG, PLC, PRCAN, SJA, SJS, SJS1, HSPG2, ENSG00000142798

OMIM
OMIM:142461: HSPG2 (Autosomal recessive inheritance)
OMIM:224410: Dyssegmental dysplasia, Silverman-Handmaker type
OMIM:255800: Schwartz-Jampel syndrome, type 1

NM_005529.5 [CDS]
hgvs_c: NM_005529.5:c.2357A>G
reference AA: N
variant AA: S
reference codon: aAc
variant codon: aGc
cDNA pos: 2397
CDS pos: 2357
translation impact: non_synonymous
protein sequence: NP_005520.4
AA pos: 786
hgvs_p: NP_005520.4:p.Asn786Ser
blosum: 1
PolyPhen2: benign (0.072)

rs143736974
GMAF = 0.001797
TOPMED_MAF = 0.00472254077471967

209161
clinvar_significance = Uncertain_significance
clinvar_disease = Schwartz Jampel syndrome type 1

EVS
EVS MAF (European American/African American/All) = 0.008953,0.001589,0.006459

ExAC Finnish, (104 / 6612), 1.57%
gnomAD Estonian, (90 / 4826), 1.86% curated_classification = 4