RGD:11347980 Rat Genome Database

Variant: RGD:11347980 - Homo sapiens

RGD ID:

11347980

RS ID:

rs200069356

ClinVar ID:

CV242958

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PRKAR1A

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	66,518,940
GRCh38	17	68,522,799

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
LRG_514t2:c.221G>A NM_212472.2:c.221G>A LRG_514:g.114177G>A NG_007093.3:g.114177G>A More...	12/08/2020	missense variant	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	infancy\|neonatal	<1 / 1 000 000	ACRODYSOSTOSIS 1 WITH HORMONE RESISTANCE; ACRODYSOSTOSIS 1 WITHOUT HORMONE RESISTANCE; ACRODYSOSTOSIS WITH HORMONE RESISTANCE; Acrodysplasia; AllHighlyPenetrant; Cancer predisposition; CARNEY MYXOMA-ENDOCRINE COMPLEX; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Nasal hypoplasia-peripheral dysostosis-mental retardation syndrome; Neoplastic Syndromes, Hereditary; Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome; Tumor predisposition

Disease Annotations Click to see Annotation Detail View

acrodysostosis (IAGP)

Acrodysostosis 1, with or without Hormone Resistance (IAGP)

Carney complex (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PRKAR1A
Accession:	NM_001276289
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	74

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESGSTAASEEARSLRECELYVQKHNIQALLKDSIVQLCTARPERPMAFLREYFERLEKEEAKQIQNLQKAGTHTDSRED EISPPPPNPVVKGRRRRGAISAEVYTEEDAASYVRKVIPKDYKTMAALAKAIEKNVLFSHLDDNERSDIFDAMFSVSFIA GETVIQQGDEGDNFYVIDQGETDVYVNNEWATSVGEGGSFGELALIYGTPRAATVKAKTNVKLWGIDRDSYRRILMGSTL RKRKMYEEFLSKVSILESLDKWERLTVADALEPVQFEDGQKIVVQGEPGDEFFIILEGSAAVLQRRSENEEFVEVGRLGP SDYFGEIALLMNRPRAATVVARGPLKCVKLDRPRFERVLGPCSDILKRNIQQYNSFVSLSV*

Gene Symbol:	PRKAR1A
Accession:	NM_001369389
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	74

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESGSTAASEEARSLRECELYVQKHNIQALLKDSIVQLCTARPERPMAFLREYFERLEKEEAKQIQNLQKAGTHTDSRED EISPPPPNPVVKGRRRRGAISAEVYTEEDAASYVRKVIPKDYKTMAALAKAIEKNVLFSHLDDNERSDIFDAMFSVSFIA GETVIQQGDEGDNFYVIDQGETDVYVNNEWATSVGEGGSFGELALIYGTPRAATVKAKTNVKLWGIDRDSYRRILMGSTL RKRKMYEEFLSKVSILESLDKWERLTVADALEPVQFEDGQKIVVQGEPGDEFFIILEGSAAVLQRRSENEEFVEVGRLGP SDYFGEIALLMNRPRAATVVARGPLKCVKLDRPRFERVLGPCSDILKRNIQQYNSFVSLSV*

Gene Symbol:	PRKAR1A
Accession:	NM_001369390
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	74

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESGSTAASEEARSLRECELYVQKHNIQALLKDSIVQLCTARPERPMAFLREYFERLEKEEAKQIQNLQKAGTHTDSRED EISPPPPNPVVKGRRRRGAISAEVYTEEDAASYVRKVIPKDYKTMAALAKAIEKNVLFSHLDDNERSDIFDAMFSVSFIA GETVIQQGDEGDNFYVIDQGETDVYVNNEWATSVGEGGSFGELALIYGTPRAATVKAKTNVKLWGIDRDSYRRILMGSTL RKRKMYEEFLSKVSILESLDKWERLTVADALEPVQFEDGQKIVVQGEPGDEFFIILEGSAAVLQRRSENEEFVEVGRLGP SDYFGEIALLMNRPRAATVVARGPLKCVKLDRPRFERVLGPCSDILKRNIQQYNSFVSLSV*

Gene Symbol:	PRKAR1A
Accession:	NM_212472
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	74

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESGSTAASEEARSLRECELYVQKHNIQALLKDSIVQLCTARPERPMAFLREYFERLEKEEAKQIQNLQKAGTHTDSRED EISPPPPNPVVKGRRRRGAISAEVYTEEDAASYVRKVIPKDYKTMAALAKAIEKNVLFSHLDDNERSDIFDAMFSVSFIA GETVIQQGDEGDNFYVIDQGETDVYVNNEWATSVGEGGSFGELALIYGTPRAATVKAKTNVKLWGIDRDSYRRILMGSTL RKRKMYEEFLSKVSILESLDKWERLTVADALEPVQFEDGQKIVVQGEPGDEFFIILEGSAAVLQRRSENEEFVEVGRLGP SDYFGEIALLMNRPRAATVVARGPLKCVKLDRPRFERVLGPCSDILKRNIQQYNSFVSLSV*

Gene Symbol:	PRKAR1A
Accession:	XM_011524984
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	74

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESGSTAASEEARSLRECELYVQKHNIQALLKDSIVQLCTARPERPMAFLREYFERLEKEEAKQIQNLQKAGTHTDSRED EISPPPPNPVVKGRRRRGAISAEVYTEEDAASYVRKVIPKDYKTMAALAKAIEKNVLFSHLDDNERSDIFDAMFSVSFIA GETVIQQGDEGDNFYVIDQGETDVYVNNEWATSVGEGGSFGELALIYGTPRAATVKAKTNVKLWGIDRDSYRRILMGSTL RKRKMYEEFLSKVSILESLDKWERLTVADALEPVQFEDGQKIVVQGEPGDEFFIILEGSAAVLQRRSENEEFVEVGRLGP SDYFGEIALLMNRPRAATVVARGPLKCVKLDRPRFERVLGPCSDILKRNIQQYNSFVSLSV*

Gene Symbol:	PRKAR1A
Accession:	NM_001276290
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	74

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESGSTAASEEARSLRECELYVQKHNIQALLKDSIVQLCTARPERPMAFLREYFERLEKEEAKQIQNLQKAGTHTDSRED EISPPPPNPVVKGRRRRGAISAEVYTEEDAASYVRKVIPKDYKTMAALAKAIEKNVLFSHLDDNERSDIFDAMFSVSFIA GETVIQQGDEGDNFYVIDQGETDVYVNNEWATSVGEGGSFGELALIYGTPRAATVKAKTNVKLWGIDRDSYRRILMGSTL RKRKMYEEFLSKVSILESLDKWERLTVADALEPVQFEDGQKIVVQGEPGDEFFIILEGSAAVLQRRSENEEFVEVGRLGP SDYFGHLIISRRSIPLG*

Gene Symbol:	PRKAR1A
Accession:	NM_002734
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	74

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESGSTAASEEARSLRECELYVQKHNIQALLKDSIVQLCTARPERPMAFLREYFERLEKEEAKQIQNLQKAGTHTDSRED EISPPPPNPVVKGRRRRGAISAEVYTEEDAASYVRKVIPKDYKTMAALAKAIEKNVLFSHLDDNERSDIFDAMFSVSFIA GETVIQQGDEGDNFYVIDQGETDVYVNNEWATSVGEGGSFGELALIYGTPRAATVKAKTNVKLWGIDRDSYRRILMGSTL RKRKMYEEFLSKVSILESLDKWERLTVADALEPVQFEDGQKIVVQGEPGDEFFIILEGSAAVLQRRSENEEFVEVGRLGP SDYFGEIALLMNRPRAATVVARGPLKCVKLDRPRFERVLGPCSDILKRNIQQYNSFVSLSV*

Gene Symbol:	PRKAR1A
Accession:	XM_047436369
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	74

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESGSTAASEEARSLRECELYVQKHNIQALLKDSIVQLCTARPERPMAFLREYFERLEKEEAKQIQNLQKAGTHTDSRED EISPPPPNPVVKGRRRRGAISAEVYTEEDAASYVRKVIPKDYKTMAALAKAIEKNVLFSHLDDNERSDIFDAMFSVSFIA GETVIQQGDEGDNFYVIDQGETDVYVNNEWATSVGEGGSFGELALIYGTPRAATVKAKTNVKLWGIDRDSYRRILMGSTL RKRKMYEEFLSKVSILESLDKWERLTVADALEPVQFEDGQKIVVQGEPGDEFFIILEGSAAVLQRRSENEEFVEVGRLGP SDYFGEIALLMNRPRAATVVARGPLKCVKLDRPRFERVLGPCSDILKRNIQQYNSFVSLSV*

Gene Symbol:	PRKAR1A
Accession:	NM_212471
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	74

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESGSTAASEEARSLRECELYVQKHNIQALLKDSIVQLCTARPERPMAFLREYFERLEKEEAKQIQNLQKAGTHTDSRED EISPPPPNPVVKGRRRRGAISAEVYTEEDAASYVRKVIPKDYKTMAALAKAIEKNVLFSHLDDNERSDIFDAMFSVSFIA GETVIQQGDEGDNFYVIDQGETDVYVNNEWATSVGEGGSFGELALIYGTPRAATVKAKTNVKLWGIDRDSYRRILMGSTL RKRKMYEEFLSKVSILESLDKWERLTVADALEPVQFEDGQKIVVQGEPGDEFFIILEGSAAVLQRRSENEEFVEVGRLGP SDYFGEIALLMNRPRAATVVARGPLKCVKLDRPRFERVLGPCSDILKRNIQQYNSFVSLSV*

Gene Symbol:	PRKAR1A
Accession:	XM_047436370
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	74

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESGSTAASEEARSLRECELYVQKHNIQALLKDSIVQLCTARPERPMAFLREYFERLEKEEAKQIQNLQKAGTHTDSRED EISPPPPNPVVKGRRRRGAISAEVYTEEDAASYVRKVIPKDYKTMAALAKAIEKNVLFSHLDDNERSDIFDAMFSVSFIA GETVIQQGDEGDNFYVIDQGETDVYVNNEWATSVGEGGSFGELALIYGTPRAATVKAKTNVKLWGIDRDSYRRILMGSTL RKRKMYEEFLSKVSILESLDKWERLTVADALEPVQFEDGQKIVVQGEPGDEFFIILEGSAAVLQRRSENEEFVEVGRLGP SDYFGEIALLMNRPRAATVVARGPLKCVKLDRPRFERVLGPCSDILKRNIQQYNSFVSLSV*

Gene Symbol:	PRKAR1A
Accession:	NM_001278433
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	74

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESGSTAASEEARSLRECELYVQKHNIQALLKDSIVQLCTARPERPMAFLREYFERLEKEEAKQIQNLQKAGTHTDSRED EISPPPPNPVVKGRRRRGAISAEVYTEEDAASYVRKVIPKDYKTMAALAKAIEKNVLFSHLDDNERSDIFDAMFSVSFIA GETVIQQGDEGDNFYVIDQGETDVYVNNEWATSVGEGGSFGELALIYGTPRAATVKAKTNVKLWGIDRDSYRRILMGSTL RKRKMYEEFLSKVSILESLDKWERLTVADALEPVQFEDGQKIVVQGEPGDEFFIILEGSAAVLQRRSENEEFVEVGRLGP SDYFGEIALLMNRPRAATVVARGPLKCVKLDRPRFERVLGPCSDILKRNIQQYNSFVSLSV*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28051113	PMID:28492532	PMID:29264456	PMID:32443704	PMID:34313605

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000384218	CLINVAR
	RCV000561393	CLINVAR
	RCV000588205	CLINVAR
	RCV000990054	CLINVAR
	RCV003947769	CLINVAR
dbSNP (RS)	rs200069356	CLINVAR
MedGen	C0027672	CLINVAR
	C2607929	CLINVAR
	C3276228	CLINVAR
	CN169374	CLINVAR
NCBI Gene	PRKAR1A	CLINVAR
OMIM	101800	CLINVAR
	160980	CLINVAR
	188830	CLINVAR
SNOMED CT	699346009	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:11347980 - Homo sapiens

Imported Disease Annotations - ClinVar