Variant (rsID / SNP)

rs34442536

rs34442536 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGPS. Location: chromosome 2, position 178,257,664. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AGPSBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:178257664
Cytoband: 2q31.2
HGVS: NM_003659.4(AGPS):c.147C>T (p.Pro49=)
Allele change: Synonymous_P49P

Associated conditions / phenotypes

Rhizomelic chondrodysplasia punctata type 3|Rhizomelic chondrodysplasia punctata

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.