NM_015698.6(GPKOW):c.1279G>C (p.Gly427Arg) AND Holoprosencephaly-hypokinesia-congenital contractures syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 29, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003985202.1
Allele description [Variation Report for NM_015698.6(GPKOW):c.1279G>C (p.Gly427Arg)]
NM_015698.6(GPKOW):c.1279G>C (p.Gly427Arg)
Condition(s)
-
Homo sapiens 4-aminobutyrate aminotransferase, mRNA (cDNA clone MGC:35480 IMAGE:...
Homo sapiens 4-aminobutyrate aminotransferase, mRNA (cDNA clone MGC:35480 IMAGE:5195212), complete cdsgi|21618651|gb|BC031413.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 23, 2024