Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs530766982
- Species
- Homo sapiens
- Symbol
- rs530766982
- Category
- Variant
- Variant type
- SNP
- Overlaps
- KMT2C
- Location
- 7:152152804
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)7:152152804G>A
- HGVS.c name
- ENSEMBL:ENST00000262189.11:c.12427C>T
- ENSEMBL:ENST00000355193.1:c.12646C>T
- HGVS.p name
- ENSP00000262189:p.Leu4143Phe
- ENSP00000347325:p.Leu4216Phe
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr7:152134922...152436644 (301.72 kb)
- Assembly version
- Not Available
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