NM_054012.4(ASS1):c.832del (p.Ser278fs) AND Citrullinemia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001048427.6
Allele description [Variation Report for NM_054012.4(ASS1):c.832del (p.Ser278fs)]
NM_054012.4(ASS1):c.832del (p.Ser278fs)
Condition(s)
-
protein max isoform X16 [Cavia porcellus]
protein max isoform X16 [Cavia porcellus]gi|348573567|ref|XP_003472562.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024