RGD:10042789 Rat Genome Database

Variant: RGD:10042789 - Homo sapiens

RGD ID:

10042789

RS ID:

rs786204837

ClinVar ID:

CV172291

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

WNT5A

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	3	55,513,527
GRCh38	3	55,479,499

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	Age of Onset	Prevalence	Trait Synonyms
NM_001377271.1:c.161G>A NM_001377272.1:c.161G>A NM_003392.7:c.206G>A NP_001364200.1:p.Cys54Tyr More...	09/01/2017	missense variant	pathogenic\|uncertain significance\|not provided	neonatal/infancy	<1 / 1 000 000	Acral dysostosis with facial and genital abnormalities; Costovertebral segmentation defect with mesomelia (formerly); Covesdem syndrome (formerly); Fetal face syndrome; Robinow dwarfism; WNT5A-Related Robinow Syndrome, Autosomal Dominant

Disease Annotations Click to see Annotation Detail View

autosomal dominant Robinow syndrome 1 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	WNT5A
Accession:	NM_003392
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	69

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKKSIGILSPGVALGMAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQK KLCHLYQDHMQYIGEGAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELS TCGCSRAARPKDLPRDWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKC HGVSGSCSLKTCWLQLADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGT QGRLCNKTSEGMDGCELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_047448861
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_011534089
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_017007128
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_011534088
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_047448854
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	NM_001377272
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_047448859
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_047448860
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	NM_001256105
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_047448853
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_047448858
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	NM_001377271
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_047448856
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_011534086
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_017007127
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	83

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHPTTQVPTTLGTLQEKSIGILSPGVALGMAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQ PLYSQLAGLSQGQKKLCHLYQDHMQYIGEGAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGV VNAMSRACREGELSTCGCSRAARPKDLPRDWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAG RRTVYNLADVACKCHGVSGSCSLKTCWLQLADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSP DYCVRNESTGSLGTQGRLCNKTSEGMDGCELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_047448852
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_047448855
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_047448857
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Gene Symbol:	WNT5A
Accession:	XM_047448862
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSAMSSKFFLVALAIFFSFAQVVIEANSWWSLGMNNPVQMSEVYIIGAQPLYSQLAGLSQGQKKLCHLYQDHMQYIGE GAKTGIKECQYQFRHRRWNCSTVDNTSVFGRVMQIGSRETAFTYAVSAAGVVNAMSRACREGELSTCGCSRAARPKDLPR DWLWGGCGDNIDYGYRFAKEFVDARERERIHAKGSYESARILMNLHNNEAGRRTVYNLADVACKCHGVSGSCSLKTCWLQ LADFRKVGDALKEKYDSAAAMRLNSRGKLVQVNSRFNSPTTQDLVYIDPSPDYCVRNESTGSLGTQGRLCNKTSEGMDGC ELMCCGRGYDQFKTVQTERCHCKFHWCCYVKCKKCTEIVDQFVCK*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:24716670	PMID:25326635	PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000169741	CLINVAR
dbSNP (RS)	rs786204837	CLINVAR
MedGen	C4551475	CLINVAR
NCBI Gene	WNT5A	CLINVAR
OMIM	164975	CLINVAR
	180700	CLINVAR
OMIM Allele	164975.0004	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)

Create Name:

Description:

Send us a Message

Variant: RGD:10042789 - Homo sapiens

Imported Disease Annotations - ClinVar