Variant (rsID / SNP)

rs368790885

rs368790885 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMUT. Location: chromosome 6, position 49,419,403. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MMUTLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:49419403
Cytoband: 6p12.3
HGVS: NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro)
Allele change: Missense_T370P

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.