Allele/Variant

bns59

Species
Danio rerio
Symbol
bns59
Category
allele
Allele of gene
npas4l
Transgenic Constructs
None
Synonyms
None
Description
Not Available
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_007124.7:g.52011843_52011850del

Symbol
NC_007124.7:g.52011843_52011850del
Category
Variant
Variant type
deletion
Overlaps
npas4l
Location
13:52011843-52011850
Nucleotide Change
gTGCCGCTG>g
Most Severe Consequence
  • frameshift variant
See all consequences
HGVS.g name
  • (GRCz11)13:52011843_52011850del
  • 13:g.52011843_52011850del
HGVS.c name
  • ENSEMBL:ENSDART00000181259.1:c.1601_1608del
HGVS.p name
  • :p.Val534GlyfsTer20
Synonyms
Not Available
Notes
  • Protein truncates at position 564 after 19 missense amino acids.
Cross references
Not Available
References
All alleles with this variant

Variant Molecular Consequences

Predicted effect of NC_007124.7:g.52011843_52011850del

Variant
NC_007124.7:g.52011843_52011850del
Variant type:
deletion
Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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    Phenotypes

    Phenotype Term
    Annotation details
    Source
    References
    cardiovascular system kdrl expression decreased amount, abnormal
    • ZFIN
    cardiovascular system kdrl expression decreased distribution, abnormal
    • ZFIN
    caudal vein plexus EGFP expression decreased amount, abnormal
    • ZFIN
    intermediate cell mass of mesoderm etsrp expression decreased amount, abnormal
    • ZFIN
    intermediate cell mass of mesoderm etsrp expression decreased distribution, abnormal
    • ZFIN
    intermediate cell mass of mesoderm gata1a expression decreased amount, abnormal
    • ZFIN
    intermediate cell mass of mesoderm gata1a expression decreased distribution, abnormal
    • ZFIN
    intermediate cell mass of mesoderm hbae3 expression decreased amount, abnormal
    • ZFIN
    intermediate cell mass of mesoderm hbae3 expression decreased distribution, abnormal
    • ZFIN
    intermediate cell mass of mesoderm tal1 expression decreased amount, abnormal
    • ZFIN
    Showing 1 - 10 of 20 rows
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    Disease Associations

    No data available