Variant (rsID / SNP)
rs2227956
rs2227956 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPA1L. Location: chromosome 6, position 31,778,272. The table records no clinical significance for this variant.
Reference-table entries
- Variant type
- missense_variant
- Chromosome / position
- 6:31778272
- HGVS
- NM_005527.4,c.1478C>T,p.Thr493Met
- Allele change
- Missense_T493M
Associated conditions / phenotypes
Pulmonary Disease, Chronic Obstructive|Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus|Hearing Loss, Noise-Induced|Infertility|Male Infertility|Azoospermia|Spermatogenic Failure 50|Type 2 Diabetes Mellitus|Interstitial Lung Disease 2|Pulmonary Fibrosis|Lung Disease|Sensorineural Hearing Loss|Gastric Cancer|Schizophrenia|Multiple Sclerosis|Scrub Typhus|Epidemic Typhus|Pulmonary Edema
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.