Allele/Variant

rs780752716

Species
Homo sapiens
Symbol
rs780752716
Category
Variant
Variant type
SNP
Overlaps
LARGE1
Location
22:33274427
Nucleotide Change
C>T
Most Severe Consequence
  • stop retained variant
See all consequences
HGVS.g name
  • (GRCh38)22:33274427C>T
HGVS.c name
  • ENSEMBL:ENST00000354992.7:c.2271G>A
  • ENSEMBL:ENST00000397394.8:c.2271G>A
HGVS.p name
  • ENSP00000347088:p.Ter757=
  • ENSP00000380549:p.Ter757=
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available

Genome location
Assembly version
Not Available
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Variant Molecular Consequences

Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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