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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:
Type: single nucleotide variant
Location: Chr1: 114675594 - assembly GRCh38
Chr1: 115218215 - assembly GRCh37
References: dbSNP: 587779372

Condition

Disease: Autistic disorder of childhood onset