NM_001330422.2(POU6F1):c.1249G>A (p.Ala417Thr) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004514841.1
Allele description [Variation Report for NM_001330422.2(POU6F1):c.1249G>A (p.Ala417Thr)]
NM_001330422.2(POU6F1):c.1249G>A (p.Ala417Thr)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
cttnbp2nla CTTNBP2 N-terminal like a [Danio rerio]
cttnbp2nla CTTNBP2 N-terminal like a [Danio rerio]Gene ID:100534706Gene
-
tz10b01.x1 NCI_CGAP_Ut1 Homo sapiens cDNA clone IMAGE:2288137 3', mRNA sequence
tz10b01.x1 NCI_CGAP_Ut1 Homo sapiens cDNA clone IMAGE:2288137 3', mRNA sequencegi|4850507|gnl|dbEST|2550954|gb|AI6 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024