NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 6, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000186011.2
Allele description [Variation Report for NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)]
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Thumpd3 protein [Mus musculus]
Thumpd3 protein [Mus musculus]gi|15215167|gb|AAH12688.1|Protein
-
sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform X2 [Danio rerio]
sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform X2 [Danio rerio]gi|688555511|ref|XP_009299855.1|Protein
-
SRP290277 (14)
SRA
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024