NM_004990.4(MARS1):c.746C>T (p.Pro249Leu) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004026074.1
Allele description [Variation Report for NM_004990.4(MARS1):c.746C>T (p.Pro249Leu)]
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
p53-induced death domain-containing protein 1 isoform X7 [Homo sapiens]
p53-induced death domain-containing protein 1 isoform X7 [Homo sapiens]gi|2217283692|ref|XP_047283198.1|Protein
-
PREDICTED: Homo sapiens p53-induced death domain protein 1 (PIDD1), transcript v...
PREDICTED: Homo sapiens p53-induced death domain protein 1 (PIDD1), transcript variant X9, mRNAgi|2462526302|ref|XM_054369318.1|Nucleotide
-
Homo sapiens cDNA clone IMAGE:5265295
Homo sapiens cDNA clone IMAGE:5265295gi|22477796|gb|BC036695.1|Nucleotide
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Last Updated: Jun 23, 2024