Allele/Variant

rs1064795323

Species
Homo sapiens
Symbol
rs1064795323
Category
Variant
Variant type
SNP
Overlaps
DDX3X
Location
X:41346589
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)X:41346589C>T
HGVS.c name
  • ENSEMBL:ENST00000441189.4:c.1483C>T
  • ENSEMBL:ENST00000457138.7:c.1534C>T
HGVS.p name
  • ENSP00000392494:p.Arg512Cys
  • ENSP00000414281:p.Arg495Cys
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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