rs386834170

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of a megaloblastic anemia mutation

Make rs386834170(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

102928424

Gene

AMN

is a	snp
is	mentioned by
dbSNP	rs386834170
dbSNP (classic)	rs386834170
ClinGen	rs386834170
ebi	rs386834170
HLI	rs386834170
Exac	rs386834170
Gnomad	rs386834170
Varsome	rs386834170
LitVar	rs386834170
Map	rs386834170
PheGenI	rs386834170
Biobank	rs386834170
1000 genomes	rs386834170
hgdp	rs386834170
ensembl	rs386834170
geneview	rs386834170
scholar	rs386834170
google	rs386834170
pharmgkb	rs386834170
gwascentral	rs386834170
openSNP	rs386834170
23andMe	rs386834170
SNPshot	rs386834170
SNPdbe	rs386834170
MSV3d	rs386834170
GWAS Ctlg	rs386834170

Max Magnitude

3

aka c.208-2A>G

ClinVar
Risk	rs386834170(G;G)
Alt	rs386834170(G;G)
Reference	Rs386834170(A;A)
Significance	Probable-Pathogenic
Disease	Megaloblastic anemia due to inborn errors of metabolism
Variation	info
Gene	AMN
CLNDBN	Megaloblastic anemia due to inborn errors of metabolism
Reversed	0
HGVS	NC_000014.8:g.103394761A>G
CLNSRC	ClinVar
CLNACC	RCV000050164.2,

[PMID 12590260] Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

[PMID 15024727] Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.

[PMID 17114957] Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function.

[PMID 17285242] Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.

[PMID 22078000 ] Ancient founder mutation is responsible for Imerslund-Grasbeck Syndrome among diverse ethnicities.