NM_014688.5(USP6NL):c.1903C>T (p.Pro635Ser) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004213503.1
Allele description [Variation Report for NM_014688.5(USP6NL):c.1903C>T (p.Pro635Ser)]
NM_014688.5(USP6NL):c.1903C>T (p.Pro635Ser)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
E3 ubiquitin-protein ligase FANCL isoform 1 [Homo sapiens]
E3 ubiquitin-protein ligase FANCL isoform 1 [Homo sapiens]gi|167860138|ref|NP_001108108.1|Protein
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Mus musculus tumor protein D52-like 2 (Tpd52l2), mRNA
Mus musculus tumor protein D52-like 2 (Tpd52l2), mRNAgi|31560246|ref|NM_025482.2|Nucleotide
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RecName: Full=RUN and FYVE domain-containing protein 1; AltName: Full=FYVE-finge...
RecName: Full=RUN and FYVE domain-containing protein 1; AltName: Full=FYVE-finger protein EIP1; AltName: Full=La-binding protein 1; AltName: Full=Rab4-interacting protein; AltName: Full=Zinc finger FYVE domain-containing protein 12gi|110282993|sp|Q96T51.2|RUFY1_HUMAProtein
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Profile neighbors for GEO Profiles (Select 116918290) (199)
GEO Profiles
-
Profile neighbors for GEO Profiles (Select 116938217) (199)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Nov 3, 2024