Variant (rsID / SNP)

rs34608771

rs34608771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH2D4A. Location: chromosome 8, position 19,221,700. The table records no clinical significance for this variant.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SH2D4ANot classified

Variant type: missense_variant
Chromosome / position: 8:19221700
HGVS: NM_001174159.2,c.824G>A,p.Ser275Asn
Allele change: Missense_S230N

Associated conditions / phenotypes

Haim-Munk Syndrome|Periodontitis|Keratosis

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.