ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
mucopolysaccharidosis type 1
Revel Score:
ENST00000247933
0.845
ENST00000453894
0.845
ENST00000514224 (MANE Select)
0.845
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002383C>T , CM000666.2:g.1002383C>T | GRCh38 |
| NC_000004.11:g.996171C>T , CM000666.1:g.996171C>T | GRCh37 |
| NC_000004.10:g.986171C>T | NCBI36 |
| NG_008103.1:g.20387C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1087C>T | ENSP00000247933.4:p.Arg363Cys | |
| ENST00000514224.2:c.1087C>T MANE Select | ENSP00000425081.2:p.Arg363Cys | |
| ENST00000652070.1:n.1143C>T | ||
| ENST00000247933.8:c.1087C>T | ENSP00000247933.4:p.Arg363Cys | |
| ENST00000514224.1:c.691C>T | ENSP00000425081.1:p.Arg231Cys | |
| ENST00000514698.5:n.1194C>T | ||
| NM_000203.4:c.1087C>T | NP_000194.2:p.Arg363Cys | |
| NR_110313.1:n.1175C>T | ||
| XM_006713882.2:c.691C>T | XP_006713945.1:p.Arg231Cys | |
| XM_011513459.1:c.1153C>T | XP_011511761.1:p.Arg385Cys | |
| XM_011513460.1:c.946C>T | XP_011511762.1:p.Arg316Cys | |
| XM_011513461.1:c.880C>T | XP_011511763.1:p.Arg294Cys | |
| XM_011513462.1:c.799C>T | XP_011511764.1:p.Arg267Cys | |
| XM_011513463.1:c.799C>T | XP_011511765.1:p.Arg267Cys | |
| XR_924947.1:n.1156C>T | ||
| NM_000203.5:c.1087C>T MANE Select | NP_000194.2:p.Arg363Cys | |
| NM_001363576.1:c.691C>T | NP_001350505.1:p.Arg231Cys | |
| XM_011513461.2:c.880C>T | XP_011511763.1:p.Arg294Cys | |
| XM_017008163.1:c.127C>T | XP_016863652.1:p.Arg43Cys |