RGD:405768967 Rat Genome Database

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Variant: RGD:405768967 -  Homo sapiens

RGD ID: 405768967
ClinVar ID: CV3303103
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCDC158  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 77,288,926
GRCh38 4 76,367,773
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001042784.1:c.1351G>A
NM_001394954.1:c.1351G>A
NC_000004.12:g.76367773C>T
NC_000004.11:g.77288926C>T
More... 		03/05/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CCDC158
Accession:XM_011531915
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL
EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL
KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI
FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS
DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN
KRLWDRDTGNSITIDHLRRELDNRNMEVQRLEALLKALKSECQGQMERQMTAIQGKNESLEKVSSLTAQLESTKEMLRKV
VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK
DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA
GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEK
SKLSQELSTVATEKNKMAGELEVLRSQERRLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGP
GYTSNSSLKPRLLQPASVTRSHSNVPSSQSTASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGR
TSLGALYVAVEDRVRDCITESSLRSDMCHRSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNS
ASRSFNSSPKKSPVHSLLTSSVEGSIGSTSQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKN
QAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:CCDC158
Accession:XM_017008160
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL
EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL
KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI
FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS
DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN
KRLWDRDTGNSITIDHLRRELDNRNMEVQRLEALLKALKSECQGQMERQMTAIQGKNESLEKVSSLTAQLESTKEMLRKV
VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK
DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA
GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG
SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER
RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ
STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH
RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST
SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:CCDC158
Accession:XM_011531910
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL
EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL
KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI
FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS
DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN
KRLWDRDTGNSITIDHLRRELDNRNMEVQRLEALLKALKSECQGQMERQMTAIQGKNESLEKVSSLTAQLESTKEMLRKV
VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK
DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA
GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG
SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER
RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ
STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH
RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST
SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:CCDC158
Accession:XM_011531913
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL
EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL
KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI
FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS
DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN
KRLWDRDTGNSITIDHLRRELDNRNMEVQRLEALLKALKSECQGQMERQMTAIQGKNESLEKVSSLTAQLESTKEMLRKV
VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK
DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA
GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG
SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER
RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ
STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH
RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST
SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:CCDC158
Accession:XM_011531909
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL
EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL
KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI
FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS
DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN
KRLWDRDTGNSITIDHLRRELDNRNMEVQRLEALLKALKSECQGQMERQMTAIQGKNESLEKVSSLTAQLESTKEMLRKV
VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK
DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA
GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG
SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER
RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ
STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH
RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST
SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:CCDC158
Accession:XM_011531912
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL
EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL
KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI
FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS
DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN
KRLWDRDTGNSITIDHLRRELDNRNMEVQRLEALLKALKSECQGQMERQMTAIQGKNESLEKVSSLTAQLESTKEMLRKV
VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK
DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA
GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG
SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER
RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ
STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH
RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST
SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:CCDC158
Accession:XM_011531914
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL
EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL
KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI
FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS
DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN
KRLWDRDTGNSITIDHLRRELDNRNMEVQRLEALLKALKSECQGQMERQMTAIQGKNESLEKVSSLTAQLESTKEMLRKV
VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK
DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA
GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG
SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER
RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ
STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH
RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST
SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:CCDC158
Accession:XM_005262974
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL
EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL
KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI
FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS
DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN
KRLWDRDTGNSITIDHLRRELDNRNMEVQRLEALLKALKSECQGQMERQMTAIQGKNESLEKVSSLTAQLESTKEMLRKV
VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK
DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA
GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG
SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER
RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ
STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALEDRVRDCITESSLRSDMCHRSNN
SLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGSTSQYR
SAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:CCDC158
Accession:XM_011531908
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL
EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL
KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI
FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS
DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN
KRLWDRDTGNSITIDHLRRELDNRNMEVQRLEALLKALKSECQGQMERQMTAIQGKNESLEKVSSLTAQLESTKEMLRKV
VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK
DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA
GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG
SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER
RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ
STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH
RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST
SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:CCDC158
Accession:XM_011531917
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 369
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIFYQVVVSHLMESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCLKE
DMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRIFP
VEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLSDL
ESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQNKR
LWDRDTGNSITIDHLRRELDNRNMEVQRLEALLKALKSECQGQMERQMTAIQGKNESLEKVSSLTAQLESTKEMLRKVVE
ELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEKDK
VIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNAGS
ERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEGSD
GHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQERRL
KEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQST
ASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCHRS
NNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGSTSQ
YRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:CCDC158
Accession:XM_011531911
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL
EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL
KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI
FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS
DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN
KRLWDRDTGNSITIDHLRRELDNRNMEVQRLEALLKALKSECQGQMERQMTAIQGKNESLEKVSSLTAQLESTKEMLRKV
VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK
DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA
GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG
SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER
RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ
STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH
RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST
SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:CCDC158
Accession:NM_001394954
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL
EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL
KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI
FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS
DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN
KRLWDRDTGNSITIDHLRRELDNRNMEVQRLEALLKALKSECQGQMERQMTAIQGKNESLEKVSSLTAQLESTKEMLRKV
VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK
DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA
GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG
SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER
RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ
STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH
RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST
SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:CCDC158
Accession:NM_001042784
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL
EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL
KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI
FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS
DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN
KRLWDRDTGNSITIDHLRRELDNRNMEVQRLEALLKALKSECQGQMERQMTAIQGKNESLEKVSSLTAQLESTKEMLRKV
VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK
DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA
GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG
SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER
RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ
STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALEDRVRDCITESSLRSDMCHRSNN
SLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGSTSQYR
SAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:CCDC158
Accession:XR_938729
Location:EXON;NON-CODING

Gene Symbol:CCDC158
Accession:XR_938730
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004434946 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CCDC158 CLINVAR