Search Germline Variant Data

Topography
Morphology

cDNA Descriptions
i.e.: c.524G>A or 524G>A
Reference Sequence: NM_000546.5
Protein Descriptions
i.e.: p.R175H or R175H
Reference Sequence: UniProt P04637
Genomic Descriptions (hg19)
i.e.: g.7578406C>T or 7578406C>T
Reference Sequence: GenBank NC_000017.10
Genomic Descriptions (hg38)
i.e.: g.7675088C>T or 7675088C>T
Reference Sequence: GenBank NC_000017.11
Type
Description
Struct-Function Motif
Exon/Intron
Effect
Transactivation Class
SIFT Class
Chromosome Positioning
Mutant Base (coding)
Codon Number
Wild-Type Codon
Mutant Codon
Wild-Type Amino Acid
Mutant Amino Acid

Age at Diagnosis
Sex
Family History
Mode of Inheritance
Family Case
Country/Population

Reference