Variant (rsID / SNP)

rs34147094

rs34147094 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNNM4. Location: chromosome 2, position 97,427,135. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CNNM4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:97427135
Cytoband: 2q11.2
HGVS: NM_020184.4(CNNM4):c.399G>A (p.Val133=)
Allele change: Synonymous_V133V

Associated conditions / phenotypes

Jalili syndrome

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.