NM_007313.3(ABL1):c.20A>G (p.Lys7Arg) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 6, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002636938.9
Allele description [Variation Report for NM_007313.3(ABL1):c.20A>G (p.Lys7Arg)]
NM_007313.3(ABL1):c.20A>G (p.Lys7Arg)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
paired box protein Pax-2 isoform e [Homo sapiens]
paired box protein Pax-2 isoform e [Homo sapiens]gi|1003701517|ref|NP_003981.3|Protein
-
Chain A, NAP1-binding protein 2
Chain A, NAP1-binding protein 2gi|109156935|pdb|1YN8|AProtein
-
E3 SUMO-protein ligase PIAS2 isoform 7 [Homo sapiens]
E3 SUMO-protein ligase PIAS2 isoform 7 [Homo sapiens]gi|1022435223|ref|NP_001310980.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Nov 10, 2024