NM_006700.3(TRAFD1):c.1514C>T (p.Ala505Val) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 2, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004677438.1
Allele description [Variation Report for NM_006700.3(TRAFD1):c.1514C>T (p.Ala505Val)]
NM_006700.3(TRAFD1):c.1514C>T (p.Ala505Val)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
SRP039459 (77)
SRA
-
Conserved Domain Links for Protein (Select 4502455) (1)
Conserved Domains
-
synaptojanin-1 isoform X1 [Rattus norvegicus]
synaptojanin-1 isoform X1 [Rattus norvegicus]gi|1958666361|ref|XP_038944618.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024