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OMIA 002548-9913 : Haplotype with homozygous deficiency HH35 in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 605514 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

Inheritance: Häfliger et al. (2022) reported a 77% deficiency of homozygotes for this haplotype in Swiss Holsteins.

Molecular basis: Based on strong evidence from Swiss Holsteins, Häfliger et al. (2022) reported PCDH15; c.2599C>G as a likely causal variant for this harmful haplotype.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PCDH15 protocadherin-related 15 Bos taurus 26 NC_037353.1 (4509270..5569299) PCDH15 Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1443 Swiss Holstein Deficiency of haplotype HH35 PCDH15 missense Naturally occurring variant ARS-UCD1.2 26 g.5325675C>G c.2599C>G p.(L867V) XM_015460562.2; XP_015316048.2 rs469553146 2022 35361830
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Reference


2022 Häfliger, I.M., Spengeler, M., Seefried, F.R., Drögemüller, C. :
Four novel candidate causal variants for deficient homozygous haplotypes in Holstein cattle. Sci Rep 12:5435, 2022. Pubmed reference: 35361830. DOI: 10.1038/s41598-022-09403-6.

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  • Created by Frank Nicholas on 04 Apr 2022