NM_000036.2(AMPD1):c.1714C>T (p.Pro572Ser) AND Autistic disorder of childhood onset
| Significance: | Uncertain significance |
|---|---|
| ClinVar: | RCV000143847 |
Variant: NM_000036.2(AMPD1):c.1714C>T (p.Pro572Ser) |
|
| Type: | Variant |
Allele: NM_000036.2(AMPD1):c.1714C>T (p.Pro572Ser) 97349 |
|
| Gene: | AMPD1 |
| Type: | single nucleotide variant |
| Location: |
Chr1: 114675594
- assembly
GRCh38 Chr1: 115218215 - assembly GRCh37 |
| References: | dbSNP:
587779372 |
Condition |
|
| Disease: | Autistic disorder of childhood onset |