NM_019043.4(APBB1IP):c.1793T>G (p.Leu598Arg) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004146781.1
Allele description [Variation Report for NM_019043.4(APBB1IP):c.1793T>G (p.Leu598Arg)]
NM_019043.4(APBB1IP):c.1793T>G (p.Leu598Arg)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
SAMN21971440 (2)
SRA
-
WC2Skin
WC2Skinbiosample
-
Model organism or animal sample from Marmota monax
Model organism or animal sample from Marmota monaxbiosample
-
603050859F1 NIH_MGC_116 Homo sapiens cDNA clone IMAGE:5190903 5', mRNA sequence
603050859F1 NIH_MGC_116 Homo sapiens cDNA clone IMAGE:5190903 5', mRNA sequencegi|15756140|gnl|dbEST|9605403|gb|BI 2.1|Nucleotide
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Last Updated: Oct 13, 2024