RGD:405667956 Rat Genome Database

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Variant: RGD:405667956 - Homo sapiens

RGD ID:

405667956

ClinVar ID:

CV3240001

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DDX55

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	12	124,102,394
GRCh38	12	123,617,847

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
NM_020936.3:c.1139T>G NC_000012.12:g.123617847T>G NC_000012.11:g.124102394T>G NR_135104.2:n.1189T>G More...	12/08/2023	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	DDX55
Accession:	NM_020936
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	380

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHVTEGSWESLPVPLHPQVLGALRELGFPYMTPVQSATIPLFMRNKDVAAEAVTGSGKTLAFVIPILEILLRREEKLKK SQVGAIIITPTRELAIQIDEVLSHFTKHFPEFSQILWIGGRNPGEDVERFKQQGGNIIVATPGRLEDMFRRKAEGLDLAS CVRSLDVLVLDEADRLLDMGFEASINTILEFLPKQRRTGLFSATQTQEVENLVRAGLRNPVRVSVKEKGVAASSAQKTPS RLENYYMVCKADEKFNQLVHFLRNHKQEKHLVFFSTCACVEYYGKALEVLVKGVKIMCIHGKMKYKRNKIFMEFRKLQSG ILVCTDVMARGIDIPEVNWVLQYDPPSNASAFVHRCGRTARIGHGGSALVFLLPMEESYSNFLAINQKCPLQEMKPQRNT ADLLPKLKSMALADRAVFEKGMKAFVSYVQAYAKHECNLIFRLKDLDFASLARGFALLRMPKMPELRGKQFPDFVPVDVN TDTIPFKDKIREKQRQKLLEQQRREKTENEGRRKFIKNKAWSKQKAKKEKKKKMNEKRKREEGSDIEDEDMEELLNDTRL LKKLKKGKITEEEFEKGLLTTGKRTIKTVDLGISDLEDDC*

Gene Symbol:	DDX55
Accession:	XM_017019710
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	398

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHVTEGSWESLPVPLHPQVLGALRELGFPYMTPVQSATIPLFMRNKDVAAEAVTGSGKTLAFVIPILEILLRREEKLKK SQVGAIIITPTRELAIQIDEVLSHFTKHFPEFSQILWIGGRNPGEDVERFKQQGGNIIVATPGRLEDMFRRKAEGLDLAS CVRSLDVLVLDEADRLLDMGFEASINTILEFLPKQRRTGLFSATQTQEVENLVRAGLRNPVRVSVKEKGVAASSAQKTPS RLENYYMVCKADEKFNQLVHFLRNHKQEKHLVFFRYSSGLCGRGIRDSARMCSTCACVEYYGKALEVLVKGVKIMCIHGK MKYKRNKIFMEFRKLQSGILVCTDVMARGIDIPEVNWVLQYDPPSNASAFVHRCGRTARIGHGGSALVFLLPMEESYSNF LAINQKCPLQEMKPQRNTADLLPKLKSMALADRAVFEKGMKAFVSYVQAYAKHECNLIFRLKDLDFASLARGFALLRMPK MPELRGKQFPDFVPVDVNTDTIPFKDKIREKQRQKLLEQQRREKTENEGRRKFIKNKAWSKQKAKKEKKKKMNEKRKREE GSDIEDEDMEELLNDTRLLKKLKKGKITEEEFEKGLLTTGKRTIKTVDLGISDLEDDC*

Gene Symbol:	DDX55
Accession:	XM_017019711
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	360

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNSEEERETKTLCLQVTGSGKTLAFVIPILEILLRREEKLKKSQVGAIIITPTRELAIQIDEVLSHFTKHFPEFSQILWI GGRNPGEDVERFKQQGGNIIVATPGRLEDMFRRKAEGLDLASCVRSLDVLVLDEADRLLDMGFEASINTILEFLPKQRRT GLFSATQTQEVENLVRAGLRNPVRVSVKEKGVAASSAQKTPSRLENYYMVCKADEKFNQLVHFLRNHKQEKHLVFFRYSS GLCGRGIRDSARMCSTCACVEYYGKALEVLVKGVKIMCIHGKMKYKRNKIFMEFRKLQSGILVCTDVMARGIDIPEVNWV LQYDPPSNASAFVHRCGRTARIGHGGSALVFLLPMEESYSNFLAINQKCPLQEMKPQRNTADLLPKLKSMALADRAVFEK GMKAFVSYVQAYAKHECNLIFRLKDLDFASLARGFALLRMPKMPELRGKQFPDFVPVDVNTDTIPFKDKIREKQRQKLLE QQRREKTENEGRRKFIKNKAWSKQKAKKEKKKKMNEKRKREEGSDIEDEDMEELLNDTRLLKKLKKGKITEEEFEKGLLT TGKRTIKTVDLGISDLEDDC*

Gene Symbol:	DDX55
Accession:	XM_017019712
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	355

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNKDVAAEAVTGSGKTLAFVIPILEILLRREEKLKKSQVGAIIITPTRELAIQIDEVLSHFTKHFPEFSQILWIGGRNP GEDVERFKQQGGNIIVATPGRLEDMFRRKAEGLDLASCVRSLDVLVLDEADRLLDMGFEASINTILEFLPKQRRTGLFSA TQTQEVENLVRAGLRNPVRVSVKEKGVAASSAQKTPSRLENYYMVCKADEKFNQLVHFLRNHKQEKHLVFFRYSSGLCGR GIRDSARMCSTCACVEYYGKALEVLVKGVKIMCIHGKMKYKRNKIFMEFRKLQSGILVCTDVMARGIDIPEVNWVLQYDP PSNASAFVHRCGRTARIGHGGSALVFLLPMEESYSNFLAINQKCPLQEMKPQRNTADLLPKLKSMALADRAVFEKGMKAF VSYVQAYAKHECNLIFRLKDLDFASLARGFALLRMPKMPELRGKQFPDFVPVDVNTDTIPFKDKIREKQRQKLLEQQRRE KTENEGRRKFIKNKAWSKQKAKKEKKKKMNEKRKREEGSDIEDEDMEELLNDTRLLKKLKKGKITEEEFEKGLLTTGKRT IKTVDLGISDLEDDC*

Gene Symbol:	DDX55
Accession:	XM_047429221
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	355

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNKDVAAEAVTGSGKTLAFVIPILEILLRREEKLKKSQVGAIIITPTRELAIQIDEVLSHFTKHFPEFSQILWIGGRNP GEDVERFKQQGGNIIVATPGRLEDMFRRKAEGLDLASCVRSLDVLVLDEADRLLDMGFEASINTILEFLPKQRRTGLFSA TQTQEVENLVRAGLRNPVRVSVKEKGVAASSAQKTPSRLENYYMVCKADEKFNQLVHFLRNHKQEKHLVFFRYSSGLCGR GIRDSARMCSTCACVEYYGKALEVLVKGVKIMCIHGKMKYKRNKIFMEFRKLQSGILVCTDVMARGIDIPEVNWVLQYDP PSNASAFVHRCGRTARIGHGGSALVFLLPMEESYSNFLAINQKCPLQEMKPQRNTADLLPKLKSMALADRAVFEKGMKAF VSYVQAYAKHECNLIFRLKDLDFASLARGFALLRMPKMPELRGKQFPDFVPVDVNTDTIPFKDKIREKQRQKLLEQQRRE KTENEGRRKFIKNKAWSKQKAKKEKKKKMNEKRKREEGSDIEDEDMEELLNDTRLLKKLKKGKITEEEFEKGLLTTGKRT IKTVDLGISDLEDDC*

Gene Symbol:	DDX55
Accession:	XM_047429222
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	337

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNKDVAAEAVTGSGKTLAFVIPILEILLRREEKLKKSQVGAIIITPTRELAIQIDEVLSHFTKHFPEFSQILWIGGRNP GEDVERFKQQGGNIIVATPGRLEDMFRRKAEGLDLASCVRSLDVLVLDEADRLLDMGFEASINTILEFLPKQRRTGLFSA TQTQEVENLVRAGLRNPVRVSVKEKGVAASSAQKTPSRLENYYMVCKADEKFNQLVHFLRNHKQEKHLVFFSTCACVEYY GKALEVLVKGVKIMCIHGKMKYKRNKIFMEFRKLQSGILVCTDVMARGIDIPEVNWVLQYDPPSNASAFVHRCGRTARIG HGGSALVFLLPMEESYSNFLAINQKCPLQEMKPQRNTADLLPKLKSMALADRAVFEKGMKAFVSYVQAYAKHECNLIFRL KDLDFASLARGFALLRMPKMPELRGKQFPDFVPVDVNTDTIPFKDKIREKQRQKLLEQQRREKTENEGRRKFIKNKAWSK QKAKKEKKKKMNEKRKREEGSDIEDEDMEELLNDTRLLKKLKKGKITEEEFEKGLLTTGKRTIKTVDLGISDLEDDC*

Gene Symbol:	DDX55
Accession:	XM_047429227
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	337

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNKDVAAEAVTGSGKTLAFVIPILEILLRREEKLKKSQVGAIIITPTRELAIQIDEVLSHFTKHFPEFSQILWIGGRNP GEDVERFKQQGGNIIVATPGRLEDMFRRKAEGLDLASCVRSLDVLVLDEADRLLDMGFEASINTILEFLPKQRRTGLFSA TQTQEVENLVRAGLRNPVRVSVKEKGVAASSAQKTPSRLENYYMVCKADEKFNQLVHFLRNHKQEKHLVFFSTCACVEYY GKALEVLVKGVKIMCIHGKMKYKRNKIFMEFRKLQSGILVCTDVMARGIDIPEVNWVLQYDPPSNASAFVHRCGRTARIG HGGSALVFLLPMEESYSNFLAINQKCPLQEMKPQRNTADLLPKLKSMALADRAVFEKGMKAFVSYVQAYAKHECNLIFRL KALLEVLPC*

Gene Symbol:	DDX55
Accession:	XM_047429224
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	398

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHVTEGSWESLPVPLHPQVLGALRELGFPYMTPVQSATIPLFMRNKDVAAEAVTGSGKTLAFVIPILEILLRREEKLKK SQVGAIIITPTRELAIQIDEVLSHFTKHFPEFSQILWIGGRNPGEDVERFKQQGGNIIVATPGRLEDMFRRKAEGLDLAS CVRSLDVLVLDEADRLLDMGFEASINTILEFLPKQRRTGLFSATQTQEVENLVRAGLRNPVRVSVKEKGVAASSAQKTPS RLENYYMVCKADEKFNQLVHFLRNHKQEKHLVFFRYSSGLCGRGIRDSARMCSTCACVEYYGKALEVLVKGVKIMCIHGK MKYKRNKIFMEFRKLQSGILVCTDVMARGIDIPEVNWVLQYDPPSNASAFVHRCGRTARIGHGGSALVFLLPMEESYSNF LAINQKCPLQEMKPQRNTADLLPKLKSMALADRAVFEKGMKAFVSYVQAYAKHECNLIFRLKALLEVLPC*

Gene Symbol:	DDX55
Accession:	XM_047429225
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	398

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHVTEGSWESLPVPLHPQVLGALRELGFPYMTPVQSATIPLFMRNKDVAAEAVTGSGKTLAFVIPILEILLRREEKLKK SQVGAIIITPTRELAIQIDEVLSHFTKHFPEFSQILWIGGRNPGEDVERFKQQGGNIIVATPGRLEDMFRRKAEGLDLAS CVRSLDVLVLDEADRLLDMGFEASINTILEFLPKQRRTGLFSATQTQEVENLVRAGLRNPVRVSVKEKGVAASSAQKTPS RLENYYMVCKADEKFNQLVHFLRNHKQEKHLVFFRYSSGLCGRGIRDSARMCSTCACVEYYGKALEVLVKGVKIMCIHGK MKYKRNKIFMEFRKLQSGILVCTDVMARGIDIPEVNWVLQYDPPSNASAFVHRCGRTARIGHGGSALVFLLPMEESYSNF LAINQKVVMGSPGDMMPAREGENVVCVCV*

Gene Symbol:	DDX55
Accession:	XM_047429226
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	398

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHVTEGSWESLPVPLHPQVLGALRELGFPYMTPVQSATIPLFMRNKDVAAEAVTGSGKTLAFVIPILEILLRREEKLKK SQVGAIIITPTRELAIQIDEVLSHFTKHFPEFSQILWIGGRNPGEDVERFKQQGGNIIVATPGRLEDMFRRKAEGLDLAS CVRSLDVLVLDEADRLLDMGFEASINTILEFLPKQRRTGLFSATQTQEVENLVRAGLRNPVRVSVKEKGVAASSAQKTPS RLENYYMVCKADEKFNQLVHFLRNHKQEKHLVFFRYSSGLCGRGIRDSARMCSTCACVEYYGKALEVLVKGVKIMCIHGK MKYKRNKIFMEFRKLQSGILVCTDVMARGIDIPEVNWVLQYDPPSNASAFVHRCGRTARIGHGGSALVFLLPMEESYSNF LAINQKPWGYDASQGR*

Gene Symbol:	DDX55
Accession:	XM_047429228
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	380

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHVTEGSWESLPVPLHPQVLGALRELGFPYMTPVQSATIPLFMRNKDVAAEAVTGSGKTLAFVIPILEILLRREEKLKK SQVGAIIITPTRELAIQIDEVLSHFTKHFPEFSQILWIGGRNPGEDVERFKQQGGNIIVATPGRLEDMFRRKAEGLDLAS CVRSLDVLVLDEADRLLDMGFEASINTILEFLPKQRRTGLFSATQTQEVENLVRAGLRNPVRVSVKEKGVAASSAQKTPS RLENYYMVCKADEKFNQLVHFLRNHKQEKHLVFFSTCACVEYYGKALEVLVKGVKIMCIHGKMKYKRNKIFMEFRKLQSG ILVCTDVMARGIDIPEVNWVLQYDPPSNASAFVHRCGRTARIGHGGSALVFLLPMEESYSNFLAINQKPWGYDASQGR*

Gene Symbol:	DDX55
Accession:	XM_047429223
Location:	EXON
Amino Acid Prediction:	I to S (nonsynonymous)
Amino Acid Position:	251

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFRRKAEGLDLASCVRSLDVLVLDEADRLLDMGFEASINTILEFLPKQRRTGLFSATQTQEVENLVRAGLRNPVRVSVKE KGVAASSAQKTPSRLENYYMVCKADEKFNQLVHFLRNHKQEKHLVFFRYSSGLCGRGIRDSARMCSTCACVEYYGKALEV LVKGVKIMCIHGKMKYKRNKIFMEFRKLQSGILVCTDVMARGIDIPEVNWVLQYDPPSNASAFVHRCGRTARIGHGGSAL VFLLPMEESYSNFLAINQKCPLQEMKPQRNTADLLPKLKSMALADRAVFEKGMKAFVSYVQAYAKHECNLIFRLKDLDFA SLARGFALLRMPKMPELRGKQFPDFVPVDVNTDTIPFKDKIREKQRQKLLEQQRREKTENEGRRKFIKNKAWSKQKAKKE KKKKMNEKRKREEGSDIEDEDMEELLNDTRLLKKLKKGKITEEEFEKGLLTTGKRTIKTVDLGISDLEDDC*

Gene Symbol:	DDX55
Accession:	NR_135104
Location:	EXON;NON-CODING

Gene Symbol:	DDX55
Accession:	NR_135105
Location:	EXON;NON-CODING

Gene Symbol:	DDX55
Accession:	XM_011538608
Location:	INTRON

Gene Symbol:	DDX55
Accession:	XM_017019715
Location:	INTRON

Gene Symbol:	DDX55
Accession:	XM_017019721
Location:	INTRON

Gene Symbol:	DDX55
Accession:	XM_017019716
Location:	INTRON

Gene Symbol:	DDX55
Accession:	XM_047429229
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004368053	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	DDX55	CLINVAR
OMIM	620176	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:405667956 - Homo sapiens