RGD:156028077 Rat Genome Database

RGD:156028077 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: RGD:156028077 - Homo sapiens

RGD ID:

156028077

ClinVar ID:

CV2195692

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	15	91,500,435
GRCh38	15	90,957,205

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000015.10:g.90957205C>T NC_000015.9:g.91500435C>T NM_033544.2:c.259C>T NP_001017919.1:p.Arg87Cys More...	11/09/2021	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	RCCD1
Accession:	NM_033544
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	87

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEERPGAWFGFGFCGFGQELGSGRGRQVHSPSPLRAGVDICRVSASWSYTAFVTRGGRLELSGSASGAAGRCKDAWASE GLLAVLCAGPGPEALLQVWAAESALRGEPLWAQNVVPEAEGEDDPAGEAQAGRLPLLPCARAYVSPRAPFYRPLAPELRA RQLELGAEHALLLDAAGQVFSWGGGRHGQLGHGTLEAELEPRLLEALQGLVMAEVAAGGWHSVCVSETGDIYIWGWNESG QLALPTRNLAEDGETVAREATELNEDGSQVKRTGGAEDGAPAPFIAVQPFPALLDLPMGSDAVKASCGSRHTAVVTRTGE LYTWGWGKYGQLGHEDTTSLDRPRRVEYFVDKQLQVKAVTCGPWNTYVYAVEKGKS*

Gene Symbol:	RCCD1
Accession:	XM_047433317
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	87

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEERPGAWFGFGFCGFGQELGSGRGRQVHSPSPLRAGVDICRVSASWSYTAFVTRGGRLELSGSASGAAGRCKDAWASE GLLAVLCAGPGPEALLQVWAAESALRGEPLWAQNVVPEAEGEDDPAGEAQAGRLPLLPCARAYVSPRAPFYRPLAPELRA RQLELGAEHALLLDAAGQVFSWGGGRHGQLGHGTLEAELEPRLLEALQGLVMAEVAAGGWHSVCVSETGDIYIWGWNESG QLALPTRNLAEDGETVAREATELNEDGSQVKRTGGAEDGAPAPFIAVQPFPALLDLPMGSDAVKASCGSRHTAVVTRTGE LYTWGWGKYGQLGHEDTTSLDRPRRVEYFVDKQLQVKAVTCGPWNTYVYAVEKGKS*

Gene Symbol:	RCCD1
Accession:	XM_047433318
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	87

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEERPGAWFGFGFCGFGQELGSGRGRQVHSPSPLRAGVDICRVSASWSYTAFVTRGGRLELSGSASGAAGRCKDAWASE GLLAVLCAGPGPEALLQVWAAESALRGEPLWAQNVVPEAEGEDDPAGEAQAGRLPLLPCARAYVSPRAPFYRPLAPELRA RQLELGAEHALLLDAAGQAWTAGPWDPGGRAGATAVGGVAGPSHG*

Gene Symbol:	RCCD1
Accession:	NM_001017919
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	87

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEERPGAWFGFGFCGFGQELGSGRGRQVHSPSPLRAGVDICRVSASWSYTAFVTRGGRLELSGSASGAAGRCKDAWASE GLLAVLCAGPGPEALLQVWAAESALRGEPLWAQNVVPEAEGEDDPAGEAQAGRLPLLPCARAYVSPRAPFYRPLAPELRA RQLELGAEHALLLDAAGQVFSWGGGRHGQLGHGTLEAELEPRLLEALQGLVMAEVAAGGWHSVCVSETGDIYIWGWNESG QLALPTRNLAEDGETVAREATELNEDGSQVKRTGGAEDGAPAPFIAVQPFPALLDLPMGSDAVKASCGSRHTAVVTRTGE LYTWGWGKYGQLGHEDTTSLDRPRRVEYFVDKQLQVKAVTCGPWNTYVYAVEKGKS*

Gene Symbol:	RCCD1
Accession:	XM_047433316
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	87

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEERPGAWFGFGFCGFGQELGSGRGRQVHSPSPLRAGVDICRVSASWSYTAFVTRGGRLELSGSASGAAGRCKDAWASE GLLAVLCAGPGPEALLQVWAAESALRGEPLWAQNVVPEAEGEDDPAGEAQAGRLPLLPCARAYVSPRAPFYRPLAPELRA RQLELGAEHALLLDAAGQVFSWGGGRHGQLGHGTLEAELEPRLLEALQGLVMAEVAAGGWHSVCVSETGDIYIWGWNESG QLALPTRNLAEDGETVAREATELNEDGSQVKRTGGAEDGAPAPFIAVQPFPALLDLPMGSDAVKASCGSRHTAVVTRTGE LYTWGWGKYGQLGHEDTTSLDRPRRVEYFVDKQLQVKAVTCGPWNTYVYAVEKGKS*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004076053	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	RCCD1	CLINVAR
OMIM	617997	CLINVAR