Transcript #00000055 (NM_020937.3, FANCM gene)

Transcript name Fanconi anemia complementation group M, transcript variant 1
Gene name FANCM (FA complementation group M)
Chromosome 14
Transcript - NCBI ID NM_020937.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_065988.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

18 entries on 1 page. Showing entries 1 - 18.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
?/? 7 c.1271G>A p.(Arg424His) Hetero BRCA2 r.(?) -
?/? 1 c.171G>C p.(Leu57Phe) Hetero BRCA1 . -
?/? 1 c.187G>A p.(Glu63Lys) Hetero no r.(?) -
-?/- 11 c.1964A>G p.(Asn655Ser) Hetero no . RECLASSIFIED NOVEMBER 2020
?/-? 14 c.3513T>C p.(Pro1171=) Hetero no . RECLASSIFIED JULY 2022
?/? 16 c.4366C>T p.(Arg1456Cys) Hetero no r.(=) -
?/? 17 c.4396T>C p.(Ser1466Pro) Hetero no . -
?/? 1 c.44G>T p.(Ser15Ile) Hetero no . -
?/- 20 c.4799C>T p.(Thr1600Ile) Hetero BRCA2 r.(4799c>u) -
?/? 20 c.4817T>G p.(Phe1606Cys) Hetero no . -
+/+ 22 c.5791C>T p.(Arg1931*) Hetero no r.(?) RECLASSIFIED NOVEMBER 2020. RISK FACTOR.
?/- 23 c.6141T>C p.(=) Hetero no r.(=) -
+/. 5 c.997C>T p.(Gln333*) Hetero ATM r.(?) -
?/? 1 c.274C>T p.(Arg92Trp) Hetero no r.(274c>u) -
?/? 4 c.869T>C p.(Ile290Thr) Hetero no r.(869u>c) -
+/+ 9 c.997C>T p.(Gln333*) Hetero N/A r.(997c>u) -
?/-? 20 c.4799C>T p.(Thr1600Ile) Hetero no r.(4799c>u) -
?/-? 20 c.4799C>T p.(Thr1600Ile) Hetero PALB2 r.(4799c>u) -
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