NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000765102.4
Allele description [Variation Report for NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp)]
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp)
Condition(s)
- Name:
- von Willebrand disease type 1 (VWD1)
- Synonyms:
- VON WILLEBRAND DISEASE, TYPE I; VWD, TYPE 1
- Identifiers:
- MONDO: MONDO:0008668; MedGen: C1264039; Orphanet: 166078; Orphanet: 903; OMIM: 193400
- Name:
- von Willebrand disease type 3 (VWD3)
- Synonyms:
- Von Willebrand disease, recessive form; Type 3 Von Willebrand's disease; Type 3 VWD; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010191; MedGen: C1264041; OMIM: 277480
- Name:
- von Willebrand disease type 2 (VWD2)
- Synonyms:
- VON WILLEBRAND DISEASE, TYPE II; VWD, TYPE 2; VON WILLEBRAND DISEASE, TYPE 2A/IIE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013304; MedGen: C1264040; Orphanet: 166081; Orphanet: 903; OMIM: 613554
-
Mus musculus sushi domain containing 4 (Susd4), mRNA
Mus musculus sushi domain containing 4 (Susd4), mRNAgi|141802284|ref|NM_144796.3|Nucleotide
-
Homo sapiens kinesin light chain 4 (KLC4), transcript variant 2, mRNA
Homo sapiens kinesin light chain 4 (KLC4), transcript variant 2, mRNAgi|1676324986|ref|NM_201522.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024