NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr) AND Tuberous sclerosis 2
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Nov 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000458532.15
Allele description [Variation Report for NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr)]
NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr)
Condition(s)
-
frizzled-4 [Panthera pardus]
frizzled-4 [Panthera pardus]gi|1111131359|ref|XP_019305583.1|Protein
-
Homo sapiens U11/U12 snRNP 65K protein (FLJ25070), mRNA
Homo sapiens U11/U12 snRNP 65K protein (FLJ25070), mRNAgi|40556377|ref|NM_017619.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024