Variant (rsID / SNP)

rs144693221

rs144693221 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGD4. Location: chromosome 12, position 32,778,663. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FGD4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:32778663
Cytoband: 12p11.21
HGVS: NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)
Allele change: Missense_P656T

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4H|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.