NM_006623.4(PHGDH):c.412-1G>A AND PHGDH deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003610518.1
Allele description [Variation Report for NM_006623.4(PHGDH):c.412-1G>A]
NM_006623.4(PHGDH):c.412-1G>A
Condition(s)
-
Human DNA sequence from clone RP11-342C23 on chromosome 9, complete sequence
Human DNA sequence from clone RP11-342C23 on chromosome 9, complete sequencegi|17973909|emb|AL161728.25|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024