Variant (rsID / SNP)
rs10972300
rs10972300 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VCP. Location: chromosome 9, position 35,068,201. Clinical significance in the table: Benign.
Reference-table entries
VCPBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:35068201
- Cytoband
- 9p13.3
- HGVS
- NM_007126.5(VCP):c.129+47G>A
- Allele change
- Silent
Associated conditions / phenotypes
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6|Charcot-Marie-Tooth disease type 2Y
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.