RGD:156208614 Rat Genome Database

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Variant: RGD:156208614 -  Homo sapiens

RGD ID: 156208614
ClinVar ID: CV2370011
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSTCD  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 106,639,143
GRCh38 4 105,717,986
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024751.3:c.165+208G>C
NM_001031720.3:c.373G>C
NM_001370181.1:c.373G>C
NC_000004.12:g.105717986G>C
More... 		05/09/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:GSTCD
Accession:XM_011532248
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAIKKSLTEEEYLYLDFSHQTEGCIFPLHTSVTLFLLSYCDCKIFKICLVVTKEVSRDSSLLRDDLIQDVEIQIISRQE
LPPIVQNCCLPAVVERSDNFCRAGLAVVLRHIIQKSYEADPLKKQLLELLGFKKTCLKACAEVSQWTRLCELTIPLAIEN
FLRESSDQPPTIPVEILQLEKKLSEPVRVHNDDKLRRQKLKQQKADGVGPPLTKGKAKSKVHTQETSEGLDSSSKSLELK
VAFSKLTVQEEPATTNREPSHIRKAKASDLPPLEHVFAEGLYFTLADIVLLPCIHHFLVIISRKFSEKLVEFPLLASWYQ
RIQEVPGVKTAASKCGIQFLHLPKLLTTSTEQHPNLCEVPGVEEQSDPLFIGGPRPTMAKLMEKGIEVMFSPHPCPTWTL
DWNVLPAAVSPKEGKMSSDRALRKQQQLNNLVYVVTNQAKPGDRIVDFCSGGGHVGIVLAHMLPSCQVTLIENKELSLIR
AKKRSDELGLSNIWFIQANMEYFTGMFNIGVALHACGVATDMVIEHCIKTRASFVTCPCCYGFIQNTSKFNFPKSEQFKK
TLSYKEHMILCRFADQTAVQLPPQRRLIGKQCMCLVDLDRARAAEECGYSVQVISMEPESCSPKNNMIVGVPI*

Gene Symbol:GSTCD
Accession:NM_001370181
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAIKKSLTEEEYLYLDFSHQTEGCIFPLHTSVTLFLLSYCDCKIFKICLVVTKEVSRDSSLLRDDLIQDVEIQIISRQE
LPPIVQNCCLPAVVERSDNFCRAGLAVVLRHIIQKSYEADPLKKQLLELLGFKKTCLKACAEVSQWTRLCELTIPLAIEN
FLRESSDQPPTIPVEILQLEKKLSEPVRVHNDDKLRRQKLKQQKADGVGPPLTKGKAKSKVHTQETSEGLDSSSKSLELK
VAFSKLTVQEEPATTNREPSHIRKAKASDLPPLEHVFAEGLYFTLADIVLLPCIHHFLVIISRKFSEKLVEFPLLASWYQ
RIQEVPGVKTAASKCGIQFLHLPKLLTTSTEQHPNLCEVPGVEEQSDPLFIGGPRPTMAKLMEKGIEVMFSPHPCPTWTL
DWNVLPAAVSPKEGKMSSDRALRKQQQLNNLVYVVTNQAKPGDRIVDFCSGGGHVGIVLAHMLPSCQVTLIENKELSLIR
AKKRSDELGLSNIWFIQANMEYFTGMFNIGVALHACGVATDMVIEHCIKTRASFVTCPCCYGFIQNTSKFNFPKSEQFKK
TLSYKEHMILCRFADQTAVQLPPQRRLIGKQCMCLVDLDRARAAEECGYSVQVISMEPESCSPKNNMIVGVPI*

Gene Symbol:GSTCD
Accession:NM_001031720
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAIKKSLTEEEYLYLDFSHQTEGCIFPLHTSVTLFLLSYCDCKIFKICLVVTKEVSRDSSLLRDDLIQDVEIQIISRQE
LPPIVQNCCLPAVVERSDNFCRAGLAVVLRHIIQKSYEADPLKKQLLELLGFKKTCLKACAEVSQWTRLCELTIPLAIEN
FLRESSDQPPTIPVEILQLEKKLSEPVRVHNDDKLRRQKLKQQKADGVGPPLTKGKAKSKVHTQETSEGLDSSSKSLELK
VAFSKLTVQEEPATTNREPSHIRKAKASDLPPLEHVFAEGLYFTLADIVLLPCIHHFLVIISRKFSEKLVEFPLLASWYQ
RIQEVPGVKTAASKCGIQFLHLPKLLTTSTEQHPNLCEVPGVEEQSDPLFIGGPRPTMAKLMEKGIEVMFSPHPCPTWTL
DWNVLPAAVSPKEGKMSSDRALRKQQQLNNLVYVVTNQAKPGDRIVDFCSGGGHVGIVLAHMLPSCQVTLIENKELSLIR
AKKRSDELGLSNIWFIQANMEYFTGMFNIGVALHACGVATDMVIEHCIKTRASFVTCPCCYGFIQNTSKFNFPKSEQFKK
TLSYKEHMILCRFADQTAVQLPPQRRLIGKQCMCLVDLDRARAAEECGYSVQVISMEPESCSPKNNMIVGVPI*

Gene Symbol:GSTCD
Accession:XM_011532252
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAIKKSLTEEEYLYLDFSHQTEGCIFPLHTSVTLFLLSYCDCKIFKICLVVTKEVSRDSSLLRDDLIQDVEIQIISRQE
LPPIVQNCCLPAVVERSDNFCRAGLAVVLRHIIQKSYEADPLKKQLLELLGFKKTCLKACAEVSQWTRLCELTIPLAIEN
FLRESSDQPPTIPVEILQLEKKLSEPVRVHNDDKLRRQKLKQQKADGVGPPLTKGKAKSKVHTQETSEGLDSSSKSLELK
VAFSKLTVQEEPATTNREPSHIRKAKASDLPPLEHVFAEGLYFTLADIVLLPCIHHFLVIISRKFSEKLVEFPLLASWYQ
RIQEVPGVKTAASKCGIQFLHLPKLLTTSTEQHPNLCEVPGVEEQSDPLFIGGPRPTMAKLMEKGIEVMFSPHPCPTWTL
DWNVLPAAVSPKEGKMSSDRALRKQQQLNNLVYVVTNQAKPGDRIVDFCSGGGHVGIVLAHMLPSCQVTLIENKELSLIR
AKKRSDELGLSNIWFIQANMEYFTGMFNIGVALHACGVATDMVIEHCIKTRASFVTCPCCYGFIQNTSKFNFPKSEQFKK
TLSYKEHMILCRFADQTAVQLPPQRRLIGKQCMCLVDLDRARAAEECGYSVQVISMEPESCSPKNNMIVGVPI*

Gene Symbol:GSTCD
Accession:XM_011532249
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAIKKSLTEEEYLYLDFSHQTEGCIFPLHTSVTLFLLSYCDCKIFKICLVVTKEVSRDSSLLRDDLIQDVEIQIISRQE
LPPIVQNCCLPAVVERSDNFCRAGLAVVLRHIIQKSYEADPLKKQLLELLGFKKTCLKACAEVSQWTRLCELTIPLAIEN
FLRESSDQPPTIPVEILQLEKKLSEPVRVHNDDKLRRQKLKQQKADGVGPPLTKGKAKSKVHTQETSEGLDSSSKSLELK
VAFSKLTVQEEPATTNREPSHIRKAKASDLPPLEHVFAEGLYFTLADIVLLPCIHHFLVIISRKFSEKLVEFPLLASWYQ
RIQEVPGVKTAASKCGIQFLHLPKLLTTSTEQHPNLCEVPGVEEQSDPLFIGGPRPTMAKLMEKGIEVMFSPHPCPTWTL
DWNVLPAAVSPKEGKMSSDRALRKQQQLNNLVYVVTNQAKPGDRIVDFCSGGGHVGIVLAHMLPSCQVTLIENKELSLIR
AKKRSDELGLSNIWFIQANMEYFTGMFNIGVALHACGVATDMVIEHCIKTRASFVTCPCCYGFIQNTSKFNFPKSEQFKK
TLSYKEHMILCRFADQTAVQLPPQRRLIGKQCMCLVDLDRARAAEECGYSVQVISMEPESCSPKNNMIVGVPI*

Gene Symbol:GSTCD
Accession:XR_938771
Location:EXON;NON-CODING

Gene Symbol:GSTCD
Accession:NM_024751
Location:INTRON

Gene Symbol:GSTCD
Accession:XM_047416179
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004210909 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene GSTCD CLINVAR
OMIM 615912 CLINVAR