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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Variant: NM_000277.2(PAH):c.168_168+1delGGinsAA
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA273936
188771 (ClinVar)
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: bba6e7f2-881f-422d-8e2c-72d0cf8a7c1d
Approved on: 2019-08-25
Published on: 2019-08-25
HGVS expressions
NM_000277.2:c.168_168+1delGGinsAA
NM_000277.2(PAH):c.168_168+1delGGinsAA
NM_000277.1:c.168_168+1delinsAA
NM_000277.2:c.168_168+1delinsAA
NM_001354304.1:c.168_168+1delinsAA
NM_000277.3:c.168_168+1delinsAA
NM_001354304.2:c.168_168+1delinsAA
ENST00000307000.7:c.153_153+1delinsAA
ENST00000546844.1:c.168_168+1delinsAA
ENST00000548677.2:n.255_255+1delinsAA
ENST00000548928.1:n.90_90+1delinsAA
ENST00000549111.5:n.264_264+1delinsAA
ENST00000550978.6:n.152_152+1delinsAA
ENST00000551337.5:c.168_168+1delinsAA
ENST00000551988.5:n.257_257+1delinsAA
ENST00000553106.5:c.168_168+1delinsAA
ENST00000635500.1:n.136_136+1delinsAA
NC_000012.12:g.102912790_102912791delinsTT
CM000674.2:g.102912790_102912791delinsTT
NC_000012.11:g.103306568_103306569delinsTT
CM000674.1:g.103306568_103306569delinsTT
NC_000012.10:g.101830698_101830699delinsTT
NG_008690.1:g.9812_9813delinsAA
NG_008690.2:g.50620_50621delinsAA
More
Evidence submitted by expert panel
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