NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala) AND not provided
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Sep 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000522599.5
Allele description [Variation Report for NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala)]
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
PREDICTED: Homo sapiens hexosaminidase D (HEXD), transcript variant X10, mRNA
PREDICTED: Homo sapiens hexosaminidase D (HEXD), transcript variant X10, mRNAgi|2217311218|ref|XM_024450705.2|Nucleotide
-
Homo sapiens fringe protein mRNA, partial cds
Homo sapiens fringe protein mRNA, partial cdsgi|6319155|gb|AF193612.1|Nucleotide
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Last Updated: Mar 30, 2024