NM_000051.4(ATM):c.7928-18C>G AND Ataxia-telangiectasia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003606635.2
Allele description [Variation Report for NM_000051.4(ATM):c.7928-18C>G]
NM_000051.4(ATM):c.7928-18C>G
Condition(s)
- Name:
- Ataxia-telangiectasia syndrome (AT)
- Synonyms:
- Louis-Bar syndrome; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008840; MedGen: C0004135; Orphanet: 100; OMIM: 208900
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BB355121 RIKEN full-length enriched, adult male corpus striatum Mus musculus cDN...
BB355121 RIKEN full-length enriched, adult male corpus striatum Mus musculus cDNA clone C030004H13 3', mRNA sequencegi|16405682|gnl|dbEST|10001617|dbj| 121.2|Nucleotide
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BB039066 RIKEN full-length enriched, 13 days embryo male testis Mus musculus cDN...
BB039066 RIKEN full-length enriched, 13 days embryo male testis Mus musculus cDNA clone 6030419C24 3', mRNA sequencegi|16258528|gnl|dbEST|9903075|dbj|B 66.2|Nucleotide
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RecName: Full=Protein YIPF6; AltName: Full=YIP1 family member 6
RecName: Full=Protein YIPF6; AltName: Full=YIP1 family member 6gi|109896316|sp|Q96EC8.2|YIPF6_HUMAProtein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024