RGD:155909812 Rat Genome Database

Advanced Search (OLGA)

Variant: RGD:155909812 - Homo sapiens

RGD ID:

155909812

ClinVar ID:

CV2303466

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CCDC158

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	77,290,655
GRCh38	4	76,369,502

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001036249.1:p.Arg424Gln NP_001381883.1:p.Arg424Gln NC_000004.11:g.77290655C>T NM_001042784.1:c.1271G>A More...	10/06/2022	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	CCDC158
Accession:	XM_017008160
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	424

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN KRLWDRDTGNSITIDHLRRELDNQNMEVQRLEALLKALKSECQGQMERQMAAIQGKNESLEKVSSLTAQLESTKEMLRKV VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:	CCDC158
Accession:	XM_011531909
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	424

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN KRLWDRDTGNSITIDHLRRELDNQNMEVQRLEALLKALKSECQGQMERQMAAIQGKNESLEKVSSLTAQLESTKEMLRKV VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:	CCDC158
Accession:	XM_011531917
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	342

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKIFYQVVVSHLMESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCLKE DMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRIFP VEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLSDL ESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQNKR LWDRDTGNSITIDHLRRELDNQNMEVQRLEALLKALKSECQGQMERQMAAIQGKNESLEKVSSLTAQLESTKEMLRKVVE ELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEKDK VIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNAGS ERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEGSD GHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQERRL KEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQST ASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCHRS NNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGSTSQ YRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:	CCDC158
Accession:	XM_011531914
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	424

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN KRLWDRDTGNSITIDHLRRELDNQNMEVQRLEALLKALKSECQGQMERQMAAIQGKNESLEKVSSLTAQLESTKEMLRKV VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:	CCDC158
Accession:	XM_011531913
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	424

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN KRLWDRDTGNSITIDHLRRELDNQNMEVQRLEALLKALKSECQGQMERQMAAIQGKNESLEKVSSLTAQLESTKEMLRKV VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:	CCDC158
Accession:	XM_011531910
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	424

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN KRLWDRDTGNSITIDHLRRELDNQNMEVQRLEALLKALKSECQGQMERQMAAIQGKNESLEKVSSLTAQLESTKEMLRKV VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:	CCDC158
Accession:	NM_001042784
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	424

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN KRLWDRDTGNSITIDHLRRELDNQNMEVQRLEALLKALKSECQGQMERQMAAIQGKNESLEKVSSLTAQLESTKEMLRKV VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALEDRVRDCITESSLRSDMCHRSNN SLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGSTSQYR SAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:	CCDC158
Accession:	XM_011531911
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	424

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN KRLWDRDTGNSITIDHLRRELDNQNMEVQRLEALLKALKSECQGQMERQMAAIQGKNESLEKVSSLTAQLESTKEMLRKV VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:	CCDC158
Accession:	XM_011531915
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	424

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN KRLWDRDTGNSITIDHLRRELDNQNMEVQRLEALLKALKSECQGQMERQMAAIQGKNESLEKVSSLTAQLESTKEMLRKV VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEK SKLSQELSTVATEKNKMAGELEVLRSQERRLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGP GYTSNSSLKPRLLQPASVTRSHSNVPSSQSTASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGR TSLGALYVAVEDRVRDCITESSLRSDMCHRSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNS ASRSFNSSPKKSPVHSLLTSSVEGSIGSTSQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKN QAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:	CCDC158
Accession:	XM_005262974
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	424

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN KRLWDRDTGNSITIDHLRRELDNQNMEVQRLEALLKALKSECQGQMERQMAAIQGKNESLEKVSSLTAQLESTKEMLRKV VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALEDRVRDCITESSLRSDMCHRSNN SLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGSTSQYR SAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:	CCDC158
Accession:	NM_001394954
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	424

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN KRLWDRDTGNSITIDHLRRELDNQNMEVQRLEALLKALKSECQGQMERQMAAIQGKNESLEKVSSLTAQLESTKEMLRKV VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:	CCDC158
Accession:	XM_011531908
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	424

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN KRLWDRDTGNSITIDHLRRELDNQNMEVQRLEALLKALKSECQGQMERQMAAIQGKNESLEKVSSLTAQLESTKEMLRKV VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

Gene Symbol:	CCDC158
Accession:	XM_011531912
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	424

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESKAWESNNEDLLSSSGVTSNGGSSSSFFVSSIRGTIIENTSSAGTLTQVPFFPKYEVELDSPRKIIPSPGKEHFERVL EEYSHQVKDLQRRLNESNELHEKQKFYLRQSVIDLQTKLQEMQMERDAMADIRRRESQSQEDLRNQLQNTVHELEAAKCL KEDMLKDSNTQIEQLRKMMLSHEGVLQEIRSILVDFEEASGKKICEHDSMSTLHFRSLGSAISKILRELDTEISYLKGRI FPVEDQLEALKSESQNKIELLLQQHQDRIEQLISEHEVEITGLTEKASSARSQANSIQSQMEIIQEQARNQNSMYMRQLS DLESTVSQLRSELREAKRMYEDKTEELEKQLVLANSELTEARTERDQFSQESGNLDDQLQKLLADLHKREKELSLEKEQN KRLWDRDTGNSITIDHLRRELDNQNMEVQRLEALLKALKSECQGQMERQMAAIQGKNESLEKVSSLTAQLESTKEMLRKV VEELTAKKMTLESSERTISDLTTSLQEKERAIEATNAEITKLRSRVDLKLQELQHLKNEGDHLRNVQTECEALKLQMTEK DKVIEILRQQIENMTQLVGQHGRTAGAMQVEKAQLEKEINDRRMELKELKILKDKKDAKIRELEARVSDLELEKVKLVNA GSERLRAVKDIKQERDQLLNEVKTSRSELNNLSEEYEVLKRNFRNKSEEMEMTTNKLKMQLKSAQSELEQTRNTLKSMEG SDGHAMKVAMGMQKQITAKRGQIDALQSKIQFLEEAMTNANKEKHFLKEEKSKLSQELSTVATEKNKMAGELEVLRSQER RLKEKVTNMEVALDKASLQFAECQDIIQRQEQESVRLKLQHTLDIKELQGPGYTSNSSLKPRLLQPASVTRSHSNVPSSQ STASFLSHHSTKANTLKEDPTRDLKQLLQELRSVINEEPAVSLSKTEEDGRTSLGALYVAVEDRVRDCITESSLRSDMCH RSNNSLRDSTEGSKSSETLSREPVTLHAGDREDPSGCFTFTSAASPSVKNSASRSFNSSPKKSPVHSLLTSSVEGSIGST SQYRSAKPIHSSDSVKDSQSPPIETTGKTCRKLQNRLESLQTLVEDLQLKNQAMSSMIRNQEKRIQKVKDQEKMLLK*

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

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004161579	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	CCDC158	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:155909812 - Homo sapiens