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TSTD3 (Thiosulfate Sulfurtransferase Like Domain Containing 3) is a Protein Coding gene. Diseases associated with TSTD3 include Leber Congenital Amaurosis 19 and Pancreatic Adenosquamous Carcinoma.
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638072 | Pathogenic: LEBER CONGENITAL AMAUROSIS 19 | 99,468,617(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
638073 | Uncertain Significance: not provided | 99,446,136(+) | T/A | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
742059 | Benign: not provided | 99,445,900(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
770177 | Benign: not provided | 99,482,751(+) | A/G | SPLICE_DONOR_VARIANT,MISSENSE_VARIANT | |
776142 | Benign: not provided | 99,464,718(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv390n21 | CNV | loss | 19592680 |
esv2672910 | CNV | deletion | 23128226 |
esv3610121 | CNV | loss | 21293372 |
nsv1029536 | CNV | loss | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
leber congenital amaurosis 19 |
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pancreatic adenosquamous carcinoma |
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