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Variant (rsID / SNP)

rs742710

CHGB

rs742710 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHGB. Location: chromosome 20, position 5,904,028. The table records no clinical significance for this variant.

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Reference-table entries

CHGBNot classified
Variant type
missense_variant
Chromosome / position
20:5904028
HGVS
NM_001819.3,c.1238C>T,p.Pro413Leu
Allele change
Missense_P413L

Associated conditions / phenotypes

Lateral Sclerosis|Amyotrophic Lateral Sclerosis 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.