rs138934573 Rat Genome Database

Advanced Search (OLGA)

Variant: rs138934573 - Homo sapiens

RGD ID:

12743183

RS ID:

rs138934573

ClinVar ID:

CV361607

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CNGA3

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	99,006,144
GRCh38	2	98,389,681

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_001298.3:c.473C>T NG_009097.1:g.48527C>T NC_000002.12:g.98389681C>T NC_000002.11:g.99006144C>T More...	08/02/2021	missense variant	conflicting interpretations of pathogenicity\|uncertain significance	Colorblindness, total; none provided; Rod monochromacy 2; Rod monochromatism 2

Disease Annotations Click to see Annotation Detail View

achromatopsia 2 (IAGP)

genetic disease (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Monochromacy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CNGA3
Accession:	XM_006712243
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	195

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAKINTQYSHPSRTHLKVKTSDRDLNRAENGLSRAHSSSEETSSVLQPGIAMETRGLADSGQGSFTGQGIARFGRIQKKS QPEKVVRAASRGRPLIGWTQWCAEDGGDESEMALAGSPGCSSGPQGRLSRLIFLLRRWAARHVHHQDQGPDSFPDRFRGA ELKEVSSQESNAQANVGSQEPADRGRRKKTKKKDVIVVDPSSNLYYRWLTAIALPVFYNWYLLICRACFDELQSEYLMLW LVLDYSADVLYVLDVLVRARTGFLEQGLMVSDTNRLWQHYKTTTQFKLDVLSLVPTDLAYLKVGTNYPEVRFNRLLKFSR LFEFFDRTETRTNYPNMFRIGNLVLYILIIIHWNACIYFAISKFIGFGTDSWVYPNISIPEHGRLSRKYIYSLYWSTLTL TTIGETPPPVKDEEYLFVVVDFLVGVLIFATIVGNVGSMISNMNASRAEFQAKIDSIKQYMQFRKVTKDLETRVIRWFDY LWANKKTVDEKEVLKSLPDKLKAEIAINVHLDTLKKVRIFQDCEAGLLVELVLKLRPTVFSPGDYICKKGDIGKEMYIIN EGKLAVVADDGVTQFVVLSDGSYFGEISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLMEALTEYPEAKKALEEKGR QILMKDNLIDEELARAGADPKDLEEKVEQLGSSLDTLQTRFARLLAEYNATQMKMKQRLSQLESQVKGGGDKPLADGEVP GDATKTEDKQQ*

Gene Symbol:	CNGA3
Accession:	XM_047443222
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	213

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAKINTQYSHPSRTHLKVKTSDRDLNRAENGLSRAHSSSEETSSVLQPGIAMETRGLADSGQGSFTGQGIARFGRIQKKS QPEKVVRAASRGRPLIGWTQWCAEDGGDESEMALAGSPGCSSGPQGRLSRLIFLLRRWAARHVHHQDQGPDSFPDRFRGA ELKEVSSQESNAQANVGSQEPADRGRSAWPLAKCNTNTSNNTEEEKKTKKKDVIVVDPSSNLYYRWLTAIALPVFYNWYL LICRACFDELQSEYLMLWLVLDYSADVLYVLDVLVRARTGFLEQGLMVSDTNRLWQHYKTTTQFKLDVLSLVPTDLAYLK VGTNYPEVRFNRLLKFSRLFEFFDRTETRTNYPNMFRIGNLVLYILIIIHWNACIYFAISKFIGFGTDSWVYPNISIPEH GRLSRKYIYSLYWSTLTLTTIGETPPPVKDEEYLFVVVDFLVGVLIFATIVGNVGSMISNMNASRAEFQAKIDSIKQYMQ FRKVTKDLETRVIRWFDYLWANKKTVDEKEVLKSLPDKLKAEIAINVHLDTLKKVRIFQDCEAGLLVELVLKLRPTVFSP GDYICKKGDIGKEMYIINEGKLAVVADDGVTQFVVLSDGSYFGEISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLM EALTEYPEAKKALEEKGRQILMKDNLIDEELARAGADPKDLEEKVEQLGSSLDTLQTRFARLLAEYNATQMKMKQRLSQL ESQVKGGGDKPLADGEVPGDATKTEDKQQ*

Gene Symbol:	CNGA3
Accession:	NM_001298
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	158

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAKINTQYSHPSRTHLKVKTSDRDLNRAENGLSRAHSSSEETSSVLQPGIAMETRGLADSGQGSFTGQGIARLSRLIFLL RRWAARHVHHQDQGPDSFPDRFRGAELKEVSSQESNAQANVGSQEPADRGRSAWPLAKCNTNTSNNTEEEKKTKKKDVIV VDPSSNLYYRWLTAIALPVFYNWYLLICRACFDELQSEYLMLWLVLDYSADVLYVLDVLVRARTGFLEQGLMVSDTNRLW QHYKTTTQFKLDVLSLVPTDLAYLKVGTNYPEVRFNRLLKFSRLFEFFDRTETRTNYPNMFRIGNLVLYILIIIHWNACI YFAISKFIGFGTDSWVYPNISIPEHGRLSRKYIYSLYWSTLTLTTIGETPPPVKDEEYLFVVVDFLVGVLIFATIVGNVG SMISNMNASRAEFQAKIDSIKQYMQFRKVTKDLETRVIRWFDYLWANKKTVDEKEVLKSLPDKLKAEIAINVHLDTLKKV RIFQDCEAGLLVELVLKLRPTVFSPGDYICKKGDIGKEMYIINEGKLAVVADDGVTQFVVLSDGSYFGEISILNIKGSKS GNRRTANIRSIGYSDLFCLSKDDLMEALTEYPEAKKALEEKGRQILMKDNLIDEELARAGADPKDLEEKVEQLGSSLDTL QTRFARLLAEYNATQMKMKQRLSQLESQVKGGGDKPLADGEVPGDATKTEDKQQ*

Gene Symbol:	CNGA3
Accession:	NM_001079878
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAKINTQYSHPSRTHLKVKTSDRDLNRAENGLSRAHSSSEETSSVLQPGIAMETRGLADSGQGSFTGQGIARLSRLIFLL RRWAARHVHHQDQGPDSFPDRFRGAELKEVSSQESNAQANVGSQEPADRGRRKKTKKKDVIVVDPSSNLYYRWLTAIALP VFYNWYLLICRACFDELQSEYLMLWLVLDYSADVLYVLDVLVRARTGFLEQGLMVSDTNRLWQHYKTTTQFKLDVLSLVP TDLAYLKVGTNYPEVRFNRLLKFSRLFEFFDRTETRTNYPNMFRIGNLVLYILIIIHWNACIYFAISKFIGFGTDSWVYP NISIPEHGRLSRKYIYSLYWSTLTLTTIGETPPPVKDEEYLFVVVDFLVGVLIFATIVGNVGSMISNMNASRAEFQAKID SIKQYMQFRKVTKDLETRVIRWFDYLWANKKTVDEKEVLKSLPDKLKAEIAINVHLDTLKKVRIFQDCEAGLLVELVLKL RPTVFSPGDYICKKGDIGKEMYIINEGKLAVVADDGVTQFVVLSDGSYFGEISILNIKGSKSGNRRTANIRSIGYSDLFC LSKDDLMEALTEYPEAKKALEEKGRQILMKDNLIDEELARAGADPKDLEEKVEQLGSSLDTLQTRFARLLAEYNATQMKM KQRLSQLESQVKGGGDKPLADGEVPGDATKTEDKQQ*

Gene Symbol:	CNGA3
Accession:	XM_011510554
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	213

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAKINTQYSHPSRTHLKVKTSDRDLNRAENGLSRAHSSSEETSSVLQPGIAMETRGLADSGQGSFTGQGIARFGRIQKKS QPEKVVRAASRGRPLIGWTQWCAEDGGDESEMALAGSPGCSSGPQGRLSRLIFLLRRWAARHVHHQDQGPDSFPDRFRGA ELKEVSSQESNAQANVGSQEPADRGRSAWPLAKCNTNTSNNTEEEKKTKKKDVIVVDPSSNLYYRWLTAIALPVFYNWYL LICRACFDELQSEYLMLWLVLDYSADVLYVLDVLVRARTGFLEQGLMVSDTNRLWQHYKTTTQFKLDVLSLVPTDLAYLK VGTNYPEVRFNRLLKFSRLFEFFDRTETRTNYPNMFRIGNLVLYILIIIHWNACIYFAISKFIGFGTDSWVYPNISIPEH GRLSRKYIYSLYWSTLTLTTIGETPPPVKDEEYLFVVVDFLVGVLIFATIVGNVGSMISNMNASRAEFQAKIDSIKQYMQ FRKVTKDLETRVIRWFDYLWANKKTVDEKEVLKSLPDKLKAEIAINVHLDTLKKVRIFQDCEAGLLVELVLKLRPTVFSP GDYICKKGDIGKEMYIINEGKLAVVADDGVTQFVVLSDGSYFGEISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLM EALTEYPEAKKALEEKGRQILMKDNLIDEELARAGADPKDLEEKVEQLGSSLDTLQTRFARLLAEYNATQMKMKQRLSQL ESQVKGGGDKPLADGEVPGDATKTEDKQQ*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000416132	CLINVAR
	RCV001142222	CLINVAR
	RCV002524677	CLINVAR
dbSNP (RS)	rs138934573	CLINVAR
MedGen	C0950123	CLINVAR
	C1857618	CLINVAR
	C3661900	CLINVAR
NCBI Gene	CNGA3	CLINVAR
OMIM	216900	CLINVAR
	600053	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)

Variant: rs138934573 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

Create Name:

Description:

Send us a Message

Variant: rs138934573 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar