NM_000051.4(ATM):c.6757A>T (p.Lys2253Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003311937.16
Allele description [Variation Report for NM_000051.4(ATM):c.6757A>T (p.Lys2253Ter)]
NM_000051.4(ATM):c.6757A>T (p.Lys2253Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
RNA5SP407 RNA, 5S ribosomal pseudogene 407 [Homo sapiens]
RNA5SP407 RNA, 5S ribosomal pseudogene 407 [Homo sapiens]Gene ID:100873659Gene
-
LOC105371231 [Homo sapiens]
LOC105371231 [Homo sapiens]Gene ID:105371231Gene
-
LOC107985349 [Homo sapiens]
LOC107985349 [Homo sapiens]Gene ID:107985349Gene
-
Vernix Caseosa
Vernix CaseosaAn unctuous substance composed of sebum and desquamated epithelial cells, which covers the skin of the fetus.<br/>MeSH
-
HMGN2P41 high mobility group nucleosomal binding domain 2 pseudogene 41 [Homo sa...
HMGN2P41 high mobility group nucleosomal binding domain 2 pseudogene 41 [Homo sapiens]Gene ID:729564Gene
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Last Updated: Oct 13, 2024