NM_203475.3(PORCN):c.49_80del (p.Cys17fs) AND Focal dermal hypoplasia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 31, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001293723.1
Allele description [Variation Report for NM_203475.3(PORCN):c.49_80del (p.Cys17fs)]
NM_203475.3(PORCN):c.49_80del (p.Cys17fs)
Condition(s)
-
mitochondrial processing peptidase [Saccharomyces cerevisiae S288C]
mitochondrial processing peptidase [Saccharomyces cerevisiae S288C]gi|6323192|ref|NP_013264.1|Protein
-
Mus musculus Smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans), mR...
Mus musculus Smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans), mRNA (cDNA clone MGC:118167 IMAGE:30734268), complete cdsgi|71681345|gb|BC100408.1|Nucleotide
-
LOC477072 [Canis lupus familiaris]
LOC477072 [Canis lupus familiaris]Gene ID:477072Gene
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See more...Assertion and evidence details
Last Updated: Jun 17, 2023