NM_020975.6(RET):c.1942G>A (p.Val648Ile) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Benign/Likely benign (3 submissions)
- Last evaluated:
- Nov 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000163319.14
Allele description [Variation Report for NM_020975.6(RET):c.1942G>A (p.Val648Ile)]
NM_020975.6(RET):c.1942G>A (p.Val648Ile)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
ankyrin repeat and MYND domain-containing protein 2 isoform X2 [Heterocephalus g...
ankyrin repeat and MYND domain-containing protein 2 isoform X2 [Heterocephalus glaber]gi|1196710071|ref|XP_021109812.1|Protein
-
Mus musculus strain NOD chromosome 4 unlocalized genomic contig, MGSCv37 alterna...
Mus musculus strain NOD chromosome 4 unlocalized genomic contig, MGSCv37 alternate locus group NODgi|307568834|gnl|ASM:GCA_000000355. _163473_37|gb|GL456053.1|Nucleotide
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Mus musculus DEAF1, transcription factor (Deaf1), transcript variant 1, mRNA
Mus musculus DEAF1, transcription factor (Deaf1), transcript variant 1, mRNAgi|530719518|ref|NM_016874.3|Nucleotide
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excise [Mycobacterium phage Porcelain]
excise [Mycobacterium phage Porcelain]gi|1209830282|gb|ASD50717.1|Protein
-
RecName: Full=Retinol dehydrogenase 5; AltName: Full=11-cis retinol dehydrogenas...
RecName: Full=Retinol dehydrogenase 5; AltName: Full=11-cis retinol dehydrogenase; Short=11-cis RDH; Short=11-cis RoDH; AltName: Full=9-cis retinol dehydrogenase; AltName: Full=Cis-retinol dehydrogenasegi|81918340|sp|O55240.1|RDH5_MOUSEProtein
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Last Updated: Sep 16, 2024