Transcript #00014138

Transcript name myosin, heavy chain 7, cardiac muscle, beta
Gene name MYH7 (myosin, heavy chain 7, cardiac muscle, beta)
Chromosome 14
Transcript - NCBI ID NM_000257.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000248.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1596 entries on 16 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-36C>T likely benign r.(?) p.(=)
-?/. - c.-8-104T>C likely benign r.(=) p.(=)
-/. - c.-8-25G>T benign r.(=) p.(=)
-/. - c.-8-25G>T benign r.(=) p.(=)
-/. 3 c.8A>C benign r.(?) p.(Asp3Ala)
?/. - c.11C>T VUS r.(?) p.(Ser4Leu)
+/. 3 c.11C>T pathogenic r.(?) p.(Ser4Leu)
-/. - c.12G>A benign r.(?) p.(=)
+/. 3 c.29_31del pathogenic r.(?) p.(Gly10del)
+/. 3 c.37G>A pathogenic r.(?) p.(Ala13Thr)
?/. - c.49C>T VUS r.(?) p.(Arg17Cys)
?/. 2 c.50G>A - r.(?) p.(Arg17His)
?/. - c.58G>A VUS r.(?) p.(Glu20Lys)
?/. - c.67C>T VUS r.(?) p.(Arg23Trp)
?/. - c.77C>T VUS r.(?) p.(Ala26Val)
+/. 3 c.77C>T pathogenic r.(?) p.(Ala26Val)
?/. - c.77C>T VUS r.(?) p.(Ala26Val)
?/. - c.77C>T VUS r.(?) p.(Ala26Val)
+?/. 3 c.77C>T likely pathogenic r.(?) p.(Ala26Val)
+/. 3 c.77C>T pathogenic r.(?) p.(Ala26Val)
+?/. - c.77C>T likely pathogenic r.(?) p.(Ala26Val)
?/. - c.115G>A VUS r.(?) p.(Val39Met)
+/. 3 c.115G>A pathogenic r.(?) p.(Val39Met)
?/. - c.115G>A VUS r.(?) p.(Val39Met)
?/. - c.121G>A VUS r.(?) p.(Asp41Asn)
?/. - c.121G>A VUS r.(?) p.(Asp41Asn)
-?/. - c.153C>T likely benign r.(?) p.(=)
-?/. - c.153C>T likely benign r.(?) p.(=)
-/. 3 c.160C>T benign r.(?) p.(Arg54*)
?/. - c.161G>A VUS r.(?) p.(Arg54Gln)
+?/. 2 c.161G>T - r.(?) p.(Arg54Leu)
+?/. - c.173A>G likely pathogenic r.(?) p.(Lys58Arg)
+/. 3 c.175G>A pathogenic r.(?) p.(Val59Ile)
?/. - c.185A>G VUS r.(?) p.(Glu62Gly)
-/. - c.189C>T benign r.(?) p.(=)
-/. - c.189C>T benign r.(?) p.(=)
-/. - c.189C>T benign r.(?) p.(=)
-/. - c.189C>T benign r.(?) p.(=)
-/. - c.189C>T benign r.(?) p.(=)
-?/. - c.201+8T>A likely benign r.(=) p.(=)
-?/. - c.201+8T>A likely benign r.(=) p.(=)
-?/. - c.201+8T>A likely benign r.(=) p.(=)
-/. - c.201+121T>C benign r.(=) p.(=)
-?/. - c.202-26G>A likely benign r.(=) p.(=)
-?/. - c.202-8_202-7insG likely benign r.(=) p.(=)
+/. 4 c.241C>T pathogenic r.(?) p.(Pro81Ser)
-?/. - c.252C>T likely benign r.(?) p.(=)
-?/. - c.261C>T likely benign r.(?) p.(=)
?/. - c.266A>G VUS r.(?) p.(Asp89Gly)
?/. - c.287T>A VUS r.(?) p.(Leu96Gln)
+/. - c.287T>A pathogenic r.(?) p.(Leu96Gln)
?/. - c.295C>G VUS r.(?) p.(Pro99Ala)
-?/. - c.297C>T likely benign r.(?) p.(=)
-/. - c.297C>T benign r.(?) p.(=)
-?/. - c.297C>T likely benign r.(?) p.(=)
?/. - c.298G>A VUS r.(?) p.(Ala100Thr)
?/. 3 c.298G>A - r.(?) p.(Ala100Thr)
-/. 4 c.321T>G benign r.(?) p.(Asp107Glu)
-/. - c.327C>T benign r.(?) p.(=)
?/. - c.327_328dup VUS r.(?) p.(Gly110Alafs*5)
?/. - c.328G>A VUS r.(?) p.(Gly110Ser)
?/. - c.328G>A VUS r.(?) p.(Gly110Ser)
?/. - c.328G>A VUS r.(?) p.(Gly110Ser)
?/. - c.331_332del VUS r.(?) p.(Ser111Leufs*26)
+/. 4 c.343T>C pathogenic r.(?) p.(Tyr115His)
?/. - c.345C>T VUS r.(?) p.(=)
-?/. - c.345C>T likely benign r.(?) p.(=)
-?/. - c.345C>T likely benign r.(?) p.(=)
-/. - c.345+24G>A benign r.(=) p.(=)
-?/. - c.345+24G>A likely benign r.(=) p.(=)
-/. - c.346-17T>C benign r.(=) p.(=)
-?/. - c.354G>A likely benign r.(?) p.(=)
-/. - c.354G>A benign r.(?) p.(=)
+/. 5 c.371C>T pathogenic r.(?) p.(Thr124Ile)
+/. 5 c.371C>T pathogenic r.(?) p.(Thr124Ile)
+?/. - c.415G>T likely pathogenic r.(?) p.(Val139Leu)
+/. 5 c.424T>C pathogenic r.(?) p.(Tyr142His)
+/. 5 c.427C>G pathogenic r.(?) p.(Arg143Gly)
+/. 5 c.427C>T pathogenic r.(?) p.(Arg143Trp)
+/. 5 c.428G>A pathogenic r.(?) p.(Arg143Gln)
+/. 5 c.428G>A pathogenic r.(?) p.(Arg143Gln)
+?/. - c.430G>A likely pathogenic r.(?) p.(Gly144Ser)
+?/. - c.430G>A likely pathogenic r.(?) p.(Gly144Ser)
+/. 5 c.438G>T pathogenic r.(?) p.(Lys146Asn)
+/. 5 c.443G>T pathogenic r.(?) p.(Ser148Ile)
-?/. - c.444C>A likely benign r.(?) p.(Ser148Arg)
-?/. - c.444C>T likely benign r.(?) p.(=)
+?/. - c.445G>A likely pathogenic r.(?) p.(Glu149Lys)
?/. - c.449C>G VUS r.(?) p.(Ala150Gly)
-/. - c.480C>T benign r.(?) p.(=)
-/. - c.480C>T benign r.(?) p.(=)
-/. - c.480C>T benign r.(?) p.(=)
-/. - c.480C>T benign r.(?) p.(=)
-?/. - c.480C>T likely benign r.(?) p.(=)
?/. - c.481G>C VUS r.(?) p.(Ala161Pro)
+?/. 5 c.484T>C likely pathogenic r.(?) p.(Tyr162His)
+/. 5 c.485A>G pathogenic r.(?) p.(Tyr162Cys)
+/. 5 c.485A>G pathogenic r.(?) p.(Tyr162Cys)
?/. - c.493A>G VUS r.(?) p.(Met165Val)
+?/. - c.495G>A likely pathogenic r.(?) p.(Met165Ile)
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