Phenotype Details
Phene ID
4322
Name
Lethality, SOWAHB-related
Phene Name
N/A
OMIA ID
2258
Species ID
9913
Characterised
Yes
Characterised Year
2017
Linked Variants
Variant IDPhenotypeGene IDDeleteriousChromosomeGenomicTranscriptProtein
1182Lethality, SOWAHB-related38826845416g.91735816G>TN/Ap.(Q379K)
Linked Breeds
BreedBreed IDSpecies IDVBO Term
Charolais (Cattle)199913http://purl.obolibrary.org/obo/VBO_0000177
Molecular Genetics

Bourneuf et al. (2017) detected SOWAHB g.93487577G>T; p.Q379K as a de novo recessive potentially lethal mutation from an analysis of whole-genome-sequence of a Charolais AI bull. No information was provided on the descendants of this bull.

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