NM_006005.3(WFS1):c.2182G>A (p.Gly728Ser) AND Wolfram syndrome 1
- Germline classification:
- Uncertain risk allele (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003126500.1
Allele description [Variation Report for NM_006005.3(WFS1):c.2182G>A (p.Gly728Ser)]
NM_006005.3(WFS1):c.2182G>A (p.Gly728Ser)
Condition(s)
-
Homo sapiens cAMP responsive element binding protein 3 like 2 (CREB3L2), transcr...
Homo sapiens cAMP responsive element binding protein 3 like 2 (CREB3L2), transcript variant 2, mRNAgi|1676325273|ref|NM_001253775.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024