Allele/Variant

Hephl1cw

Species
Mus musculus
Symbol
Hephl1cw
Category
allele
Allele of gene
Hephl1
Transgenic Constructs
None
Synonyms
  • cw
Description
This spontaneous A to G point substitution at Chr9:15076948 (GRCm38.p6) in the splice acceptor 2 base pairs upstream of exon 11 results in 2 variant transcripts assessed as cDNA from heterozygous skin, of which the 581 bp variant has an early stop codon and is likely to be eliminated by nonsense-mediated decay, and the 397 bp variant is predicted to be stable but is found in lower abundance than the 606 bp wild type transcript.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
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