ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
creatine transporter deficiency
Revel Score:
ENST00000253122 (MANE Select)
0.749
ENST00000430077
0.749
ENST00000328897
0.749
ENST00000413787
0.332
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693175G>C , CM000685.2:g.153693175G>C | GRCh38 |
| NC_000023.10:g.152958630G>C , CM000685.1:g.152958630G>C | GRCh37 |
| NC_000023.9:g.152611824G>C | NCBI36 |
| NG_012016.1:g.9879G>C | |
| NG_012016.2:g.9879G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.912G>C MANE Select | ENSP00000253122.5:p.Gln304His | |
| ENST00000253122.9:c.912G>C | ENSP00000253122.5:p.Gln304His | |
| ENST00000413787.1:c.122G>C | ENSP00000400463.1:p.Ser41Thr | |
| ENST00000430077.6:c.567G>C | ENSP00000403041.2:p.Gln189His | |
| ENST00000467402.1:n.146-317G>C | ||
| ENST00000485324.1:n.945G>C | ||
| NM_001142805.1:c.912G>C | NP_001136277.1:p.Gln304His | |
| NM_001142806.1:c.567G>C | NP_001136278.1:p.Gln189His | |
| NM_005629.3:c.912G>C | NP_005620.1:p.Gln304His | |
| NM_005629.4:c.912G>C MANE Select | NP_005620.1:p.Gln304His | |
| NM_001142805.2:c.912G>C | NP_001136277.1:p.Gln304His |