RGD:401759932 Rat Genome Database

RGD:401759932 Rat Genome Database

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Variant: RGD:401759932 - Homo sapiens

RGD ID:

401759932

ClinVar ID:

CV2701793

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

RBAK RBAK-RBAKDN

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	7	5,104,820
GRCh38	7	5,065,189

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_021163.3:c.1733A>G NP_001191385.1:p.His578Arg NP_066986.1:p.His578Arg NM_001204456.2:c.1733A>G More...	05/03/2023	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	RBAK
Accession:	NM_021163
Location:	EXON
Amino Acid Prediction:	H to R (nonsynonymous)
Amino Acid Position:	578

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNTLQGPVSFKDVAVDFTQEEWQQLDPDEKITYRDVMLENYSHLVSVGYDTTKPNVIIKLEQGEEPWIMGGEFPCQHSPE AWRVDDLIERIQENEDKHSRQAACINSKTLTEEKENTFSQIYMETSLVPSSIIAHNCVSCGKNLESISQLISSDGSYART KPDECNECGKTYHGEKMCEFNQNGDTYSHNEENILQKISILEKPFEYNECMEALDNEAVFIAHKRAYIGEKPYEWNDSGP DFIQMSNFNAYQRSQMEMKPFECSECGKSFCKKSKFIIHQRAHTGEKPYECNVCGKSFSQKGTLTVHRRSHLEEKPYKCN ECGKTFCQKLHLTQHLRTHSGEKPYECSECGKTFCQKTHLTLHQRNHSGERPYPCNECGKSFSRKSALSDHQRTHTGEKL YKCNECGKSYYRKSTLITHQRTHTGEKPYQCSECGKFFSRVSYLTIHYRSHLEEKPYECNECGKTFNLNSAFIRHRKVHT EEKSHECSECGKFSQLYLTDHHTAHLEEKPYECNECGKTFLVNSAFDGHQPLPKGEKSYECNVCGKLFNELSYYTEHYRS HSEEKPYGCSECGKTFSRNSSLFRHQRVHTGEKPYECYECGKFFSQKSYLTIHHRIHSGEKPYECSKCGKVFSRMSNLTV HYRSHSGEKPYECNECGKVFSQKSYLTVHYRTHSGEKPYECNECGKKFHHRSAFNSHQRIHRRGNMNVLDVENL*

Gene Symbol:	RBAK
Accession:	NM_001204456
Location:	EXON
Amino Acid Prediction:	H to R (nonsynonymous)
Amino Acid Position:	578

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNTLQGPVSFKDVAVDFTQEEWQQLDPDEKITYRDVMLENYSHLVSVGYDTTKPNVIIKLEQGEEPWIMGGEFPCQHSPE AWRVDDLIERIQENEDKHSRQAACINSKTLTEEKENTFSQIYMETSLVPSSIIAHNCVSCGKNLESISQLISSDGSYART KPDECNECGKTYHGEKMCEFNQNGDTYSHNEENILQKISILEKPFEYNECMEALDNEAVFIAHKRAYIGEKPYEWNDSGP DFIQMSNFNAYQRSQMEMKPFECSECGKSFCKKSKFIIHQRAHTGEKPYECNVCGKSFSQKGTLTVHRRSHLEEKPYKCN ECGKTFCQKLHLTQHLRTHSGEKPYECSECGKTFCQKTHLTLHQRNHSGERPYPCNECGKSFSRKSALSDHQRTHTGEKL YKCNECGKSYYRKSTLITHQRTHTGEKPYQCSECGKFFSRVSYLTIHYRSHLEEKPYECNECGKTFNLNSAFIRHRKVHT EEKSHECSECGKFSQLYLTDHHTAHLEEKPYECNECGKTFLVNSAFDGHQPLPKGEKSYECNVCGKLFNELSYYTEHYRS HSEEKPYGCSECGKTFSRNSSLFRHQRVHTGEKPYECYECGKFFSQKSYLTIHHRIHSGEKPYECSKCGKVFSRMSNLTV HYRSHSGEKPYECNECGKVFSQKSYLTVHYRTHSGEKPYECNECGKKFHHRSAFNSHQRIHRRGNMNVLDVENL*

Gene Symbol:	RBAK-RBAKDN
Accession:	NM_001204513
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004314186	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	RBAK	CLINVAR
	RBAK-RBAKDN	CLINVAR
OMIM	608191	CLINVAR