NM_000026.4(ADSL):c.1368G>A (p.Gln456=) AND Adenylosuccinate lyase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003602643.2
Allele description [Variation Report for NM_000026.4(ADSL):c.1368G>A (p.Gln456=)]
NM_000026.4(ADSL):c.1368G>A (p.Gln456=)
Condition(s)
-
Homo sapiens transmembrane protein 187, mRNA (cDNA clone MGC:17711 IMAGE:3868838...
Homo sapiens transmembrane protein 187, mRNA (cDNA clone MGC:17711 IMAGE:3868838), complete cdsgi|14198283|gb|BC008203.1|Nucleotide
-
602617 (1)
OMIM
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024