NM_018665.3(DDX43):c.1696C>T (p.Arg566Trp) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004196119.1
Allele description [Variation Report for NM_018665.3(DDX43):c.1696C>T (p.Arg566Trp)]
NM_018665.3(DDX43):c.1696C>T (p.Arg566Trp)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Plant sample from Aichryson pachycaulon subsp. praetermissum
Plant sample from Aichryson pachycaulon subsp. praetermissumbiosample
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tetratricopeptide repeat protein 24 isoform X5 [Homo sapiens]
tetratricopeptide repeat protein 24 isoform X5 [Homo sapiens]gi|2217264598|ref|XP_047303927.1|Protein
-
tetratricopeptide repeat protein 24 isoform X8 [Homo sapiens]
tetratricopeptide repeat protein 24 isoform X8 [Homo sapiens]gi|2462505439|ref|XP_054190766.1|Protein
-
PREDICTED: Homo sapiens tetratricopeptide repeat domain 24 (TTC24), transcript v...
PREDICTED: Homo sapiens tetratricopeptide repeat domain 24 (TTC24), transcript variant X1, mRNAgi|2462505424|ref|XM_054334784.1|Nucleotide
-
tetratricopeptide repeat protein 24 isoform X4 [Homo sapiens]
tetratricopeptide repeat protein 24 isoform X4 [Homo sapiens]gi|2462496282|ref|XP_054188811.1|Protein
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Last Updated: Oct 26, 2024