The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- See Evidence submitted by expert panel for details.
Variant: NM_000277.2(PAH):c.310_318delGCCACTGTC (p.Ala104_Val106del)
CA220580
92740 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 6d2dd44e-13de-406f-a230-bfe8aa3f0740
HGVS expressions
NM_000277.2:c.310_318delGCCACTGTC
NM_000277.2(PAH):c.310_318delGCCACTGTC (p.Ala104_Val106del)
NC_000012.12:g.102894769_102894777del
CM000674.2:g.102894769_102894777del
NC_000012.11:g.103288547_103288555del
CM000674.1:g.103288547_103288555del
NC_000012.10:g.101812677_101812685del
NG_008690.1:g.27826_27834del
NG_008690.2:g.68634_68642del
NM_000277.1:c.310_318del
NM_000277.2:c.310_318del
NM_001354304.1:c.310_318del
NM_000277.3:c.310_318del
ENST00000307000.7:c.295_303del
ENST00000546844.1:c.310_318del
ENST00000548928.1:n.232_240del
ENST00000549111.5:n.406_414del
ENST00000550978.6:n.294_302del
ENST00000551337.5:c.310_318del
ENST00000551988.5:n.399_407del
ENST00000553106.5:c.310_318del
Evidence submitted by expert panel
Approved on: 2018-08-10
Published on: 2019-08-17
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