Variant (rsID / SNP)

rs192516633

rs192516633 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LITAF. Location: chromosome 16, position 11,643,040. Clinical significance in the table: Benign.

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Reference-table entries

LITAFBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:11643040
Cytoband: 16p13.13
HGVS: NM_001136472.2(LITAF):c.*453C>A
Allele change: Silent

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 1C

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.