Unique variants in the A2M gene

Information The variants shown are described using the NM_000014.4 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 - c.-28T>G r.(?) p.(=) - benign g.9268473A>C g.9115877A>C A2M(NM_000014.5):c.-28T>G - A2M_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.387C>G r.(?) p.(Val129=) - likely benign g.9265016G>C - - - A2M_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1104+11T>C r.(=) p.(=) - benign g.9258821A>G g.9106225A>G A2M(NM_000014.5):c.1104+11T>C - A2M_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1915= r.(=) p.(Asp639=) - benign g.9248233T>C g.9095637T>C A2M(NM_000014.5):c.1915A>G (p.N639D) - A2M_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.2126-6_2126-2del r.spl p.? - VUS g.9246178_9246182del g.9093582_9093586del 2126-6_2126-2del - A2M_000007 - PubMed: Duvvari 2016 - rs3832852 Germline - - - - - LOVD
-/. 1 - c.2998A>G r.(?) p.(Ile1000Val) - benign g.9232268T>C g.9079672T>C A2M(NM_000014.5):c.2998A>G (p.I1000V) - A2M_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.4367-4dup r.spl? p.? - benign g.9220835dup - - - A2M_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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