Variant (rsID / SNP)

rs373756563

rs373756563 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV5. Location: chromosome 7, position 142,626,168. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TRPV5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:142626168
Cytoband: 7q34
HGVS: NM_019841.7(TRPV5):c.535G>A (p.Val179Met)
Allele change: Missense_V179M

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.