RGD:405665328 Rat Genome Database

RGD:405665328 Rat Genome Database

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Variant: RGD:405665328 - Homo sapiens

RGD ID:

405665328

ClinVar ID:

CV3243167

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	11	107,309,869
GRCh38	11	107,439,143

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_152434.3:c.611A>G NC_000011.10:g.107439143T>C NC_000011.9:g.107309869T>C NM_152434.2:c.611A>G NP_689647.2:p.Asp204Gly More...	01/09/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	CWF19L2
Accession:	XM_011542620
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSMAAASGRFESAKSIEERKEQTRNARAEVLRQAKANFEKEERRKELKRLRGEDTWMLPDVNERIEQFSQEHSVKKKK KKDKHSKKAKKEKKKKSKKQKYEKNNESSDSSSSSEDEWVEAVPSQTPDKEKAWKVKDEKSGKDDTQIIKRDEWMTVDFM SVKTVSSSSLKAEKETMRKIEQEKNQALEQSKLMERELNPYWKGGGTGLPPEDCSVSSITKVSVVEDGGLSWLRKSYLRM KEQAEKQSRNFEDIVAERYGSMEIFQSKLEDAEKAASTKEDYRRERWRKPTYSDKAQNCQESRESDLVKYGNSSRDRYAT TDTAKNSNNEKFIGDEKDKRPGSLETCRRESNPRQNQEFSFGNLRAKFLRPSDDEELSFHSKGRKFEPLSSSSALVAQGS LCSGFRKPTKNSEERLTSWSRSDGRGDKKHSNQKPSETSTDEHQHVPEDPREKSQDEVLRDDPPKKEHLRDTKSTFAGII AGVMVMFLSKHLLIIINTWGKKGRAHSLMFAVEQCLCCGVHKIK*

Gene Symbol:	CWF19L2
Accession:	NM_152434
Location:	EXON
Amino Acid Prediction:	D to G (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATSMAAASGRFESAKSIEERKEQTRNARAEVLRQAKANFEKEERRKELKRLRGEDTWMLPDVNERIEQFSQEHSVKKKK KKDKHSKKAKKEKKKKSKKQKYEKNNESSDSSSSSEDEWVEAVPSQTPDKEKAWKVKDEKSGKDDTQIIKRDEWMTVDFM SVKTVSSSSLKAEKETMRKIEQEKNQALEQSKLMERELNPYWKGGGTGLPPEDCSVSSITKVSVVEDGGLSWLRKSYLRM KEQAEKQSRNFEDIVAERYGSMEIFQSKLEDAEKAASTKEDYRRERWRKPTYSDKAQNCQESRESDLVKYGNSSRDRYAT TDTAKNSNNEKFIGDEKDKRPGSLETCRRESNPRQNQEFSFGNLRAKFLRPSDDEELSFHSKGRKFEPLSSSSALVAQGS LCSGFRKPTKNSEERLTSWSRSDGRGDKKHSNQKPSETSTDEHQHVPEDPREKSQDEVLRDDPPKKEHLRDTKSTFAGSP ERESIHILSVDEKNKLGAKIIKAEMMGNMELAEQLKVQLEKANKFKETITQIPKKSGVENEDQQEVILVRTDQSGRVWPV NTPGKSLESQGGRRKRQMVSTHEERERVRYFHDDDNLSLNDLVKNEKMGTAENQNKLFMRMASKFMGKTDGDYYTLDDMF VSKAAERERLGEEEENQRKKAIAEHRSLAAQMEKCLYCFDSSQFPKHLIVAIGVKVYLCLPNVRSLTEGHCLIVPLQHHR AATLLDEDIWEEIQMFRKSLVKMFEDKGLDCIFLETNMSMKKQYHMVYECIPLPKEVGDMAPIYFKKAIMESDEEWSMNK KLIDLSSKDIRKSVPRGLPYFSVDFGLHGGFAHVIEDQHKFPHYFGKEIIGGMLDIEPRLWRKGIRESFEDQRKKALQFA QWWKPYDFTKSKNY*

Gene Symbol:	CWF19L2
Accession:	XR_007062452
Location:	EXON;NON-CODING

Gene Symbol:	CWF19L2
Accession:	XM_047426419
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004367520	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	CWF19L2	CLINVAR