NM_005198.5(CHKB):c.219C>T (p.Pro73=) AND Megaconial type congenital muscular dystrophy
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jul 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001148756.19
Allele description [Variation Report for NM_005198.5(CHKB):c.219C>T (p.Pro73=)]
NM_005198.5(CHKB):c.219C>T (p.Pro73=)
Condition(s)
-
PREDICTED: Ictidomys tridecemlineatus dihydropyrimidinase (Dpys), mRNA
PREDICTED: Ictidomys tridecemlineatus dihydropyrimidinase (Dpys), mRNAgi|2015633844|ref|XM_005316263.4|Nucleotide
-
integrin alpha-4 [Gallus gallus]
integrin alpha-4 [Gallus gallus]gi|363735838|ref|XP_421974.3|Protein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024