NM_000552.5(VWF):c.3240T>C (p.Tyr1080=) AND not specified
- Germline classification:
- Benign (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000251586.17
Allele description [Variation Report for NM_000552.5(VWF):c.3240T>C (p.Tyr1080=)]
NM_000552.5(VWF):c.3240T>C (p.Tyr1080=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homologene neighbors for GEO Profiles (Select 125819095) (0)
GEO Profiles
-
Abnormality of the vasculature of the eye
Abnormality of the vasculature of the eyeMedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024