rs61755320

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Unaffected carrier of a mutation for spastic paraplegia, type 7
(T;T)	7	Spastic paraplegia, type 7; however, possibly reduced penetrance

Reference

GRCh38 38.1/142

Chromosome

16

Position

89546737

Gene

SPG7

is a	snp
is	mentioned by
dbSNP	rs61755320
dbSNP (classic)	rs61755320
ClinGen	rs61755320
ebi	rs61755320
HLI	rs61755320
Exac	rs61755320
Gnomad	rs61755320
Varsome	rs61755320
LitVar	rs61755320
Map	rs61755320
PheGenI	rs61755320
Biobank	rs61755320
1000 genomes	rs61755320
hgdp	rs61755320
ensembl	rs61755320
geneview	rs61755320
scholar	rs61755320
google	rs61755320
pharmgkb	rs61755320
gwascentral	rs61755320
openSNP	rs61755320
23andMe	rs61755320
SNPshot	rs61755320
SNPdbe	rs61755320
MSV3d	rs61755320
GWAS Ctlg	rs61755320

Max Magnitude

7

rs61755320, also known as c.1529C>T, p.Ala510Val and A510V, represents a variant in the SPG7 gene on chromosome 16.

The minor allele, rs61755320(T), appears to be associated with autosomal recessive spastic paraplegia, type 7, a disease known "to have a variable, but generally adult, age of onset". An extensive discussion of whether this variant is pathogenic can be found in [PMID 27181684 ]; the consensus amongst nine labs seems to be that this mutation, which has a higher frequency than similar mutations, may be of reduced penetrance and may represent an allele that is more likely to be pathogenic when paired with a more deleterious allele than when homozygous (on it's own).

ClinVar
Risk	Rs61755320(T;T)
Alt	Rs61755320(T;T)
Reference	Rs61755320(C;C)
Significance	Other
Disease	Spastic paraplegia 7 not provided Spastic Paraplegia
Variation	info
Gene	RPL13 SPG7
CLNDBN	Spastic paraplegia 7 not provided Spastic Paraplegia, Recessive
Reversed	0
HGVS	NC_000016.9:g.89613145C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034858.12, RCV000195683.3, RCV000198007.1, RCV000270813.1,