Variant (rsID / SNP)

rs148170949

rs148170949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA7. Location: chromosome 12, position 56,078,872. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ITGA7Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:56078872
Cytoband: 12q13.2
HGVS: NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=)
Allele change: Synonymous_P1128P

Associated conditions / phenotypes

Congenital muscular dystrophy due to integrin alpha-7 deficiency

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.