1:22155561-22155561 G > C

Classification

Category 4 curation
CMH MAF 28 / 14969 samples (0.187%)
28 het., 0 hom. (100%)
28 / 29938 total alleles (0.0935%)

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.12004C>G
reference AA: L
variant AA: V
reference codon: Ctg
variant codon: Gtg
cDNA pos: 12044
CDS pos: 12004
translation impact: non_synonymous
protein sequence: NP_005520.4
AA pos: 4002
hgvs_p: NP_005520.4:p.Leu4002Val
blosum: 1
PolyPhen2: probably_damaging (0.999)

rs140403186
GMAF = 0.004393
TOPMED_MAF = 0.00502516564729867

198971
clinvar_significance = Benign_Likely_benign

EVS
EVS MAF (European American/African American/All) = 0.000000,0.014376,0.004889

ExAC African, (25 / 1210), 2.07%
gnomAD African, (243 / 16076), 1.51% curated_classification = 4