Variant (rsID / SNP)

rs104894519

rs104894519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LITAF. Location: chromosome 16, position 11,647,432. Clinical significance in the table: Pathogenic.

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Reference-table entries

LITAFPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:11647432
Cytoband: 16p13.13
HGVS: NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
Allele change: Missense_G112S

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 1C|Charcot-Marie-Tooth disease

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.