RGD:405812876 Rat Genome Database

RGD:405812876 Rat Genome Database

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Variant: RGD:405812876 - Homo sapiens

RGD ID:

405812876

ClinVar ID:

CV3349704

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	16	67,432,172
GRCh38	16	67,398,269

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001323627.2:c.870G>T NM_013304.3:c.870G>T NC_000016.10:g.67398269C>A NC_000016.9:g.67432172C>A More...	12/13/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	ZDHHC1
Accession:	NM_013304
Location:	EXON
Amino Acid Prediction:	E to D (nonsynonymous)
Amino Acid Position:	290

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

Gene Symbol:	ZDHHC1
Accession:	XM_006721185
Location:	EXON
Amino Acid Prediction:	E to D (nonsynonymous)
Amino Acid Position:	290

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYKMNICNKPSNKTAPEKSVWTAPAQPSGPSPELQGQRSRRNGWSWPPHPLQIVAWLLYLFFAVIGFGILVPLLPHHWVP AGYACMGAIFAGHLVVHLTAVSIDPADANVRDKSYAGPLPIFNRSQHAHVIEDLHCNLCNVDVSARSKHCSACNKCVCGF DHHCKWLNNCVGERNYRLFLHSVASALLGVLLLVLVATYVFVEFFVNPMRLRTNRHFEVLKNHTDVWFVFLPAAPVETQA PAILALAALLILLGLLSTALLGHLLCFHIYLMWHKLTTYEYIVQHRPPQDAKGVHRELESCPPKMRPIQEMEFYMRTFRH MRPEPPGQAGPAAVNANPSQFLATRGQAEPPPPSSPDTLALPPRIRPQAPPCLCRKRGRGACIKCERLRPRIRRRGLGPP AAAPARRRIPRTPALCTPLALPAPTTRRRQSPWTRFQWRRRAWAAPLWPPRGAGADSPRWRGRRVRPPFS*

Gene Symbol:	ZDHHC1
Accession:	XM_011523060
Location:	EXON
Amino Acid Prediction:	E to D (nonsynonymous)
Amino Acid Position:	205

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGAIFAGHLVVHLTAVSIDPADANVRDKSYAGPLPIFNRSQHAHVIEDLHCNLCNVDVSARSKHCSACNKCVCGFDHHCK WLNNCVGERNYRLFLHSVASALLGVLLLVLVATYVFVEFFVNPMRLRTNRHFEVLKNHTDVWFVFLPAAPVETQAPAILA LAALLILLGLLSTALLGHLLCFHIYLMWHKLTTYEYIVQHRPPQDAKGVHRELESCPPKMRPIQEMEFYMRTFRHMRPEP PGQAGPAAVNAKHSRPASPDPTPGRRDCAGPPVQVEWDRKKPLPWRSPLLLLAMWGPQAPPCLCRKRGRGACIKCERLRP RIRRRGLGPPAAAPARRRIPRTPALCTPLALPAPTTRRRQSPWTRFQWRRRAWAAPLWPPRGAGADSPRWRGRRVRPPFS *

Gene Symbol:	ZDHHC1
Accession:	NM_001323627
Location:	EXON
Amino Acid Prediction:	E to D (nonsynonymous)
Amino Acid Position:	290

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

Gene Symbol:	ZDHHC1
Accession:	XM_024450247
Location:	EXON
Amino Acid Prediction:	E to D (nonsynonymous)
Amino Acid Position:	290

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYKMNICNKPSNKTAPEKSVWTAPAQPSGPSPELQGQRSRRNGWSWPPHPLQIVAWLLYLFFAVIGFGILVPLLPHHWVP AGYACMGAIFAGHLVVHLTAVSIDPADANVRDKSYAGPLPIFNRSQHAHVIEDLHCNLCNVDVSARSKHCSACNKCVCGF DHHCKWLNNCVGERNYRLFLHSVASALLGVLLLVLVATYVFVEFFVNPMRLRTNRHFEVLKNHTDVWFVFLPAAPVETQA PAILALAALLILLGLLSTALLGHLLCFHIYLMWHKLTTYEYIVQHRPPQDAKGVHRELESCPPKMRPIQEMEFYMRTFRH MRPEPPGQAGPAAVNAKKRGRGACIKCERLRPRIRRRGLGPPAAAPARRRIPRTPALCTPLALPAPTTRRRQSPWTRFQW RRRAWAAPLWPPRGAGADSPRWRGRRVRPPFS*

Gene Symbol:	ZDHHC1
Accession:	XM_024450246
Location:	EXON
Amino Acid Prediction:	E to D (nonsynonymous)
Amino Acid Position:	290

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYKMNICNKPSNKTAPEKSVWTAPAQPSGPSPELQGQRSRRNGWSWPPHPLQIVAWLLYLFFAVIGFGILVPLLPHHWVP AGYACMGAIFAGHLVVHLTAVSIDPADANVRDKSYAGPLPIFNRSQHAHVIEDLHCNLCNVDVSARSKHCSACNKCVCGF DHHCKWLNNCVGERNYRLFLHSVASALLGVLLLVLVATYVFVEFFVNPMRLRTNRHFEVLKNHTDVWFVFLPAAPVETQA PAILALAALLILLGLLSTALLGHLLCFHIYLMWHKLTTYEYIVQHRPPQDAKGVHRELESCPPKMRPIQEMEFYMRTFRH MRPEPPGQAGPAAVNAKHSRPASPDPTPGSPVSLQKKRKRRVYKVRTSETSDPASGPRAPSRRSSSSTDSADASPVHAAG PAGAYHSASAESVDEIPVAQTRLGSAALAAPRGRGRQPTLARQARAPAVFVSPSSGEPRAPGGREAGLA*

Gene Symbol:	ZDHHC1
Accession:	XM_024450245
Location:	EXON
Amino Acid Prediction:	E to D (nonsynonymous)
Amino Acid Position:	290

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004483557	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ZDHHC1	CLINVAR