NM_000051.4(ATM):c.6177dup (p.Arg2060fs) AND ATM-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004549887.1
Allele description [Variation Report for NM_000051.4(ATM):c.6177dup (p.Arg2060fs)]
NM_000051.4(ATM):c.6177dup (p.Arg2060fs)
Condition(s)
- Name:
- ATM-related disorder
- Synonyms:
- ATM-related disorders; ATM-related condition
- Identifiers:
-
Mus musculus histocompatibility 2, T region locus 3 (H2-T3), mRNA
Mus musculus histocompatibility 2, T region locus 3 (H2-T3), mRNAgi|6680154|ref|NM_008208.1|Nucleotide
-
LBH domain-containing protein 1 isoform f [Homo sapiens]
LBH domain-containing protein 1 isoform f [Homo sapiens]gi|2030184129|ref|NP_001381533.1|Protein
-
Atelomycterus erdmanni voucher NCIP:6544 cytochrome oxidase subunit I (COI) gene...
Atelomycterus erdmanni voucher NCIP:6544 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrialgi|855703336|gb|KP769787.1|Nucleotide
-
Mus musculus cDNA clone IMAGE:1264158
Mus musculus cDNA clone IMAGE:1264158gi|63100450|gb|BC094641.1|Nucleotide
-
Skin Cream
Skin CreamA water-soluble medicinal preparation applied to the skin.<br/>Year introduced: 2013MeSH
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024