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Variant (rsID / SNP)

rs141862602

LITAF

rs141862602 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LITAF. Location: chromosome 16, position 11,650,441. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LITAFConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:11650441
Cytoband
16p13.13
HGVS
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met)
Allele change
Missense_T49M

Associated conditions / phenotypes

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

Public references

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