Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1785316360
- Species
- Homo sapiens
- Symbol
- rs1785316360
- Category
- Variant
- Variant type
- SNP
- Overlaps
- CHCHD2
- Location
- 7:56102951
- Nucleotide Change
- A>C
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)7:56102951A>C
- HGVS.c name
- ENSEMBL:ENST00000395422.4:c.361T>G
- ENSEMBL:ENST00000473095.1:n.379T>G
- HGVS.p name
- ENSP00000378812:p.Phe121Val
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr7:56094567...56106479 (11.91 kb)
- Assembly version
- Not Available
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