RGD:155916643 Rat Genome Database

RGD:155916643 Rat Genome Database

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Variant: RGD:155916643 - Homo sapiens

RGD ID:

155916643

ClinVar ID:

CV2197535

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	16	67,428,766
GRCh38	16	67,394,863

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001323627.2:c.1196C>T NM_013304.3:c.1261C>T NC_000016.10:g.67394863G>A NC_000016.9:g.67428766G>A More...	12/05/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	ZDHHC1
Accession:	NM_013304
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	421

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYKMNICNKPSNKTAPEKSVWTAPAQPSGPSPELQGQRSRRNGWSWPPHPLQIVAWLLYLFFAVIGFGILVPLLPHHWVP AGYACMGAIFAGHLVVHLTAVSIDPADANVRDKSYAGPLPIFNRSQHAHVIEDLHCNLCNVDVSARSKHCSACNKCVCGF DHHCKWLNNCVGERNYRLFLHSVASALLGVLLLVLVATYVFVEFFVNPMRLRTNRHFEVLKNHTDVWFVFLPAAPVETQA PAILALAALLILLGLLSTALLGHLLCFHIYLMWHKLTTYEYIVQHRPPQEAKGVHRELESCPPKMRPIQEMEFYMRTFRH MRPEPPGQAGPAAVNAKHSRPASPDPTPGRRDCAGPPVQVEWDRKKPLPWRSPLLLLAMWGPQAPPCLCRKRGRGACIKC ERLRPRIRRRGLGPPAAAPACRRIPRTPALCTPLALPAPTTRRRQSPWTRFQWRRRAWAAPLWPPRGAGADSPRWRGRRV RPPFS*

Gene Symbol:	ZDHHC1
Accession:	XM_006721185
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	406

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYKMNICNKPSNKTAPEKSVWTAPAQPSGPSPELQGQRSRRNGWSWPPHPLQIVAWLLYLFFAVIGFGILVPLLPHHWVP AGYACMGAIFAGHLVVHLTAVSIDPADANVRDKSYAGPLPIFNRSQHAHVIEDLHCNLCNVDVSARSKHCSACNKCVCGF DHHCKWLNNCVGERNYRLFLHSVASALLGVLLLVLVATYVFVEFFVNPMRLRTNRHFEVLKNHTDVWFVFLPAAPVETQA PAILALAALLILLGLLSTALLGHLLCFHIYLMWHKLTTYEYIVQHRPPQEAKGVHRELESCPPKMRPIQEMEFYMRTFRH MRPEPPGQAGPAAVNANPSQFLATRGQAEPPPPSSPDTLALPPRIRPQAPPCLCRKRGRGACIKCERLRPRIRRRGLGPP AAAPACRRIPRTPALCTPLALPAPTTRRRQSPWTRFQWRRRAWAAPLWPPRGAGADSPRWRGRRVRPPFS*

Gene Symbol:	ZDHHC1
Accession:	XM_011523060
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	336

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGAIFAGHLVVHLTAVSIDPADANVRDKSYAGPLPIFNRSQHAHVIEDLHCNLCNVDVSARSKHCSACNKCVCGFDHHCK WLNNCVGERNYRLFLHSVASALLGVLLLVLVATYVFVEFFVNPMRLRTNRHFEVLKNHTDVWFVFLPAAPVETQAPAILA LAALLILLGLLSTALLGHLLCFHIYLMWHKLTTYEYIVQHRPPQEAKGVHRELESCPPKMRPIQEMEFYMRTFRHMRPEP PGQAGPAAVNAKHSRPASPDPTPGRRDCAGPPVQVEWDRKKPLPWRSPLLLLAMWGPQAPPCLCRKRGRGACIKCERLRP RIRRRGLGPPAAAPACRRIPRTPALCTPLALPAPTTRRRQSPWTRFQWRRRAWAAPLWPPRGAGADSPRWRGRRVRPPFS *

Gene Symbol:	ZDHHC1
Accession:	NM_001323627
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	399

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYKMNICNKPSNKTAPEKSVWTAPAQPSGPSPELQGQRSRRNGWSWPPHPLQIVAWLLYLFFAVIGFGILVPLLPHHWVP AGYACMGAIFAGHLVVHLTAVSIDPADANVRDKSYAGPLPIFNRSQHAHVIEDLHCNLCNVDVSARSKHCSACNKCVCGF DHHCKWLNNCVGERNYRLFLHSVASALLGVLLLVLVATYVFVEFFVNPMRLRTNRHFEVLKNHTDVWFVFLPAAPVETQA PAILALAALLILLGLLSTALLGHLLCFHIYLMWHKLTTYEYIVQHRPPQEAKGVHRELESCPPKMRPIQEMEFYMRTFRH MRPEPPGQAGPAAVNANPSQFLATRGQAEPPPPSSPDTLALPPRIRPQKKRKRRVYKVRTSETSDPASGPRAPSRRSSLS TDSADASPVHAAGPAGAYHSASAESVDEIPVAQTRLGSAALAAPRGRGRQPTLARQARAPAVFVSPSSGEPRAPGGREAG LA*

Gene Symbol:	ZDHHC1
Accession:	XM_024450247
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	368

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYKMNICNKPSNKTAPEKSVWTAPAQPSGPSPELQGQRSRRNGWSWPPHPLQIVAWLLYLFFAVIGFGILVPLLPHHWVP AGYACMGAIFAGHLVVHLTAVSIDPADANVRDKSYAGPLPIFNRSQHAHVIEDLHCNLCNVDVSARSKHCSACNKCVCGF DHHCKWLNNCVGERNYRLFLHSVASALLGVLLLVLVATYVFVEFFVNPMRLRTNRHFEVLKNHTDVWFVFLPAAPVETQA PAILALAALLILLGLLSTALLGHLLCFHIYLMWHKLTTYEYIVQHRPPQEAKGVHRELESCPPKMRPIQEMEFYMRTFRH MRPEPPGQAGPAAVNAKKRGRGACIKCERLRPRIRRRGLGPPAAAPACRRIPRTPALCTPLALPAPTTRRRQSPWTRFQW RRRAWAAPLWPPRGAGADSPRWRGRRVRPPFS*

Gene Symbol:	ZDHHC1
Accession:	XM_024450246
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	386

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYKMNICNKPSNKTAPEKSVWTAPAQPSGPSPELQGQRSRRNGWSWPPHPLQIVAWLLYLFFAVIGFGILVPLLPHHWVP AGYACMGAIFAGHLVVHLTAVSIDPADANVRDKSYAGPLPIFNRSQHAHVIEDLHCNLCNVDVSARSKHCSACNKCVCGF DHHCKWLNNCVGERNYRLFLHSVASALLGVLLLVLVATYVFVEFFVNPMRLRTNRHFEVLKNHTDVWFVFLPAAPVETQA PAILALAALLILLGLLSTALLGHLLCFHIYLMWHKLTTYEYIVQHRPPQEAKGVHRELESCPPKMRPIQEMEFYMRTFRH MRPEPPGQAGPAAVNAKHSRPASPDPTPGSPVSLQKKRKRRVYKVRTSETSDPASGPRAPSRRSSLSTDSADASPVHAAG PAGAYHSASAESVDEIPVAQTRLGSAALAAPRGRGRQPTLARQARAPAVFVSPSSGEPRAPGGREAGLA*

Gene Symbol:	ZDHHC1
Accession:	XM_024450245
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	421

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYKMNICNKPSNKTAPEKSVWTAPAQPSGPSPELQGQRSRRNGWSWPPHPLQIVAWLLYLFFAVIGFGILVPLLPHHWVP AGYACMGAIFAGHLVVHLTAVSIDPADANVRDKSYAGPLPIFNRSQHAHVIEDLHCNLCNVDVSARSKHCSACNKCVCGF DHHCKWLNNCVGERNYRLFLHSVASALLGVLLLVLVATYVFVEFFVNPMRLRTNRHFEVLKNHTDVWFVFLPAAPVETQA PAILALAALLILLGLLSTALLGHLLCFHIYLMWHKLTTYEYIVQHRPPQEAKGVHRELESCPPKMRPIQEMEFYMRTFRH MRPEPPGQAGPAAVNAKHSRPASPDPTPGRRDCAGPPVQVEWDRKKPLPWRSPLLLLAMWGPQAPPCLCRKRGRGACIKC ERLRPRIRRRGLGPPAAAPACRRIPRTPALCTPLALPAPTTRRRQSPWTRFQWRRRAWAAPLWPPRGAGADSPRWRGRRV RPPFS*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004081259	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ZDHHC1	CLINVAR