NM_000277.3(PAH):c.934G>T (p.Gly312Cys) AND Phenylketonuria
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 6, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000515773.1
Allele description [Variation Report for NM_000277.3(PAH):c.934G>T (p.Gly312Cys)]
NM_000277.3(PAH):c.934G>T (p.Gly312Cys)
Condition(s)
-
Palpigradi sp. 2 JA-2011 voucher MNHN-JAA79 cytochrome oxidase subunit I (COI) g...
Palpigradi sp. 2 JA-2011 voucher MNHN-JAA79 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrialgi|343169286|gb|JN018214.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022