Variant (rsID / SNP)

rs80036770

rs80036770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MATR3. Location: chromosome 5, position 138,655,196. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MATR3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:138655196
Cytoband: 5q31.2
HGVS: NM_018834.6(MATR3):c.1602+6A>G
Allele change: Silent

Associated conditions / phenotypes

Amyotrophic lateral sclerosis type 21

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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