RGD:156047794 Rat Genome Database

RGD:156047794 Rat Genome Database

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Variant: RGD:156047794 - Homo sapiens

RGD ID:

156047794

ClinVar ID:

CV2336396

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC129664402 ZNF493

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	19	21,580,043
GRCh38	19	21,397,241

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_175910.7:c.-158C>A NM_001076678.3:c.4C>A NM_145326.3:c.4C>A NC_000019.10:g.21397241C>A More...	04/23/2024	5 prime utr variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	ZNF493
Accession:	NM_175910
Location:	5UTRS;EXON

Gene Symbol:	ZNF493
Accession:	XM_047438678
Location:	5UTRS;EXON

Gene Symbol:	ZNF493
Accession:	NM_145326
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	2

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTGPPESLDMGPLTFRDVAIEFSLEEWQCLDTAQQDLYRKVMLENYRNLVFLAGIAVSKPDLVTCLEQGKDPWNMKGHST VVKPPVETGFHRFSQDGLYLLTS*

Gene Symbol:	ZNF493
Accession:	NM_001076678
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	2

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTGPPESLDMGPLTFRDVAIEFSLEEWQCLDTAQQDLYRKVMLENYRNLVFLGIAVSKPDLVTCLEQGKDPWNMKGHSTV VKPPVICSHFAEDFCPGPGIKDSFQKVILREYVKCGHKDLQLRKGCKSMNECNVHKEGYNELNQYLTTTQSKIFQCDKYV KVFHKLLNSNRHNTKHTGKKPFKCKKCGKSFCMLLHLCQHKRIHIRENSYRCEECGKAFIWFSTLTRHRRVHTGEKSYKY ECGKSFNQDSNLTTHKRIHTGQKPYKCEECGTSFYQFSYLTRHKLIHTREKPYKCEQYGKTFNQSSTLTGHKIIHNGEKP YKCEECGKAFSIFSTPTKHKIIHTEEKSHRCEEYCKAYKESSHLTTHKRIHTGEKPYKCEECGKAFSIFSTLTKHKIIHT EEKSHRCEECGKAYKESSHLTTHKRIHTGEKPYKCEECGKTFSVFSILTKHKIIHTEEKPYKCEECGKAFKRSSTLTKHR IIHTEEKPYKCEECGKAFNQSSTLSIHKIIHTGEKPYKCEECGKAFKRSSTLTIHKMIHTGEKPYKCEECGKAFNRSSHL TTHKRIHTGHKPYKCKECGKSFSVFSTLTKHKIIHTDKKPYKCEECGKAFNRSSILSIHKKIHTGEKPYKCEECGKAFKR SSHLAGHKQIHSVQKPYKCEECGKAFSIFSTLTKHKIIHTEEKPYKCEKCGKTFYRFSNLNTHKIIHTGEKPCKCEECGK AFNHSSNLIKHKLIHTGDKPYKCEACGKAFRRSSHLSRHKIIHIGIHTEETVQK*

Gene Symbol:	ZNF493
Accession:	XM_047438677
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	2

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTGPPESLDMGPLTFRDVAIEFSLEEWQCLDTAQQDLYRKVMLENYRNLVFLAGIAVSKPDLVTCLEQGKDPWNMKGHST VVKPPVICSHFAEDFCPGPGIKDSFQKVILREYVKCGHKDLQLRKGCKSMNECNVHKEGYNELNQYLTTTQSKIFQCDKY VKVFHKLLNSNRHNTKHTGKKPFKCKKCGKSFCMLLHLCQHKRIHIRENSYRCEECGKAFIWFSTLTRHRRVHTGEKSYK YECGKSFNQDSNLTTHKRIHTGQKPYKCEECGTSFYQFSYLTRHKLIHTREKPYKCEQYGKTFNQSSTLTGHKIIHNGEK PYKCEECGKAFSIFSTPTKHKIIHTEEKSHRCEEYCKAYKESSHLTTHKRIHTGEKPYKCEECGKAFSIFSTLTKHKIIH TEEKSHRCEECGKAYKESSHLTTHKRIHTGEKPYKCEECGKTFSVFSILTKHKIIHTEEKPYKCEECGKAFKRSSTLTKH RIIHTEEKPYKCEECGKAFNQSSTLSIHKIIHTGEKPYKCEECGKAFKRSSTLTIHKMIHTGEKPYKCEECGKAFNRSSH LTTHKRIHTGHKPYKCKECGKSFSVFSTLTKHKIIHTDKKPYKCEECGKAFNRSSILSIHKKIHTGEKPYKCEECGKAFK RSSHLAGHKQIHSVQKPYKCEECGKAFSIFSTLTKHKIIHTEEKPYKCEKCGKTFYRFSNLNTHKIIHTGEKPCKCEECG KAFNHSSNLIKHKLIHTGDKPYKCEACGKAFRRSSHLSRHKIIHIGIHTEETVQK*

Gene Symbol:	ZNF493
Accession:	XM_047438680
Location:	INTRON

Gene Symbol:	ZNF493
Accession:	XM_047438679
Location:	INTRON

Gene Symbol:	ZNF493
Accession:	XM_047438681
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004194615	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ZNF493	CLINVAR