Full data view for gene FAM58A

Information The variants shown are described using the NM_152274.3 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.16_17insG r.(?) p.(Gly7Argfs*51) g.152864513_152864514insC Copied from the Exome Variant Server FAM58A_000031 2581/3094 1780/2129 801/965 - - - - - - -
?/? c.52_53insG r.(?) p.(Gln19Alafs*39) g.152864477_152864478insC Copied from the Exome Variant Server FAM58A_000030 6327/6651 4125/4327 2202/2324 - - - - - - -
?/? c.111-5C>T r.spl? p.? g.152861650G>A Copied from the Exome Variant Server FAM58A_000029 2/10563 1/6728 1/3835 - - - - - - -
?/? c.179G>A r.(?) p.(Cys60Tyr) g.152861577C>T Copied from the Exome Variant Server FAM58A_000028 8/10563 0/6728 8/3835 - - - - - - -
?/? c.189T>C N/A N/A g.152861567A>G Copied from the Exome Variant Server FAM58A_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.193C>T N/A N/A g.152861563G>A Copied from the Exome Variant Server FAM58A_000026 3/10563 0/6728 3/3835 - - - - - - -
?/? c.294+13G>C r.(=) p.(=) g.152861449C>G Copied from the Exome Variant Server FAM58A_000025 2/10563 0/6728 2/3835 - - - - - - -
?/? c.294+14G>A r.(=) p.(=) g.152861448C>T Copied from the Exome Variant Server FAM58A_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.294+36G>A r.(=) p.(=) g.152861426C>T Copied from the Exome Variant Server FAM58A_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.294+41G>C r.(=) p.(=) g.152861421C>G Copied from the Exome Variant Server FAM58A_000022 2/10562 0/6727 2/3835 - - - - - - -
?/? c.294+45G>C r.(=) p.(=) g.152861417C>G Copied from the Exome Variant Server FAM58A_000021 1/10562 0/6727 1/3835 - - - - - - -
?/? c.294+47C>T r.(=) p.(=) g.152861415G>A Copied from the Exome Variant Server FAM58A_000020 2/10562 0/6727 2/3835 - - - - - - -
?/? c.295-37G>T r.(=) p.(=) g.152860174C>A Copied from the Exome Variant Server FAM58A_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.335C>T r.(?) p.(Ser112Phe) g.152860097G>A Copied from the Exome Variant Server FAM58A_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.336G>A N/A N/A g.152860096C>T Copied from the Exome Variant Server FAM58A_000034 30/10563 28/6728 2/3835 - - - - - - -
?/? c.346A>G N/A N/A g.152860086T>C Copied from the Exome Variant Server FAM58A_000033 3/10563 1/6728 2/3835 - - - - - - -
?/? c.422C>T r.(?) p.(Pro141Leu) g.152860010G>A Copied from the Exome Variant Server FAM58A_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.427+8C>T r.(=) p.(=) g.152859997G>A Copied from the Exome Variant Server FAM58A_000018 85/10563 2/6728 83/3835 - - - - - - -
?/? c.427+18G>C r.(=) p.(=) g.152859987C>G Copied from the Exome Variant Server FAM58A_000017 24/10563 0/6728 24/3835 - - - - - - -
?/? c.428-31G>A r.(=) p.(=) g.152858222C>T Copied from the Exome Variant Server FAM58A_000016 1/10548 0/6724 1/3824 - - - - - - -
?/? c.428-22G>A r.(=) p.(=) g.152858213C>T Copied from the Exome Variant Server FAM58A_000015 1/10549 0/6724 1/3825 - - - - - - -
?/? c.428-12G>A r.(=) p.(=) g.152858203C>T Copied from the Exome Variant Server FAM58A_000014 2/10558 2/6727 0/3831 - - - - - - -
?/? c.488A>T N/A N/A g.152858131T>A Copied from the Exome Variant Server FAM58A_000013 1/10562 1/6727 0/3835 - - - - - - -
?/? c.500G>A N/A N/A g.152858119C>T Copied from the Exome Variant Server FAM58A_000012 1/10560 1/6725 0/3835 - - - - - - -
?/? c.505C>T N/A N/A g.152858114G>A Copied from the Exome Variant Server FAM58A_000011 2/10559 2/6724 0/3835 - - - - - - -
?/? c.571C>T N/A N/A g.152858048G>A Copied from the Exome Variant Server FAM58A_000010 4/10559 4/6724 0/3835 - - - - - - -
?/? c.574C>T N/A N/A g.152858045G>A Copied from the Exome Variant Server FAM58A_000009 1/10559 1/6724 0/3835 - - - - - - -
?/? c.622C>T r.(?) p.(Pro208Ser) g.152857997G>A Copied from the Exome Variant Server FAM58A_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.625C>T N/A N/A g.152857994G>A Copied from the Exome Variant Server FAM58A_000007 8/10563 8/6728 0/3835 - - - - - - -
?/? c.631C>T N/A N/A g.152857988G>A Copied from the Exome Variant Server FAM58A_000006 1/10560 0/6725 1/3835 - - - - - - -
?/? c.632G>A N/A N/A g.152857987C>T Copied from the Exome Variant Server FAM58A_000005 1/10560 1/6725 0/3835 - - - - - - -
?/? c.656-9T>C r.(=) p.(=) g.152853921A>G Copied from the Exome Variant Server FAM58A_000004 14/10563 0/6728 14/3835 - - - - - - -
?/? c.656-8_656-6del r.(=) p.(=) g.152853918_152853920del Copied from the Exome Variant Server FAM58A_000003 2/10205 2/6484 0/3721 - - - - - - -
?/? c.667C>T N/A N/A g.152853901G>A Copied from the Exome Variant Server FAM58A_000002 2/10563 0/6728 2/3835 - - - - - - -
?/? c.722A>G r.(?) p.(Tyr241Cys) g.152853846T>C Copied from the Exome Variant Server FAM58A_000001 19/10559 18/6724 1/3835 - - - - - - -
Legend