SNP Links for Protein (Select 283436224) - SNP

Links from Protein

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Select item 14900820731.

rs1490082073 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1523925 (GRCh38)
1:1459305 (GRCh37)
Canonical SPDI:: NC_000001.11:1523924:G:A
Gene:: ATAD3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.1523925G>A, NC_000001.10:g.1459305G>A, NG_053035.1:g.16783G>A, NM_018188.5:c.1194G>A, NM_018188.4:c.1194G>A, NM_018188.3:c.1194G>A, NM_001170535.3:c.1050G>A, NM_001170535.2:c.1050G>A, NM_001170535.1:c.1050G>A, NM_001170536.3:c.813G>A, NM_001170536.2:c.813G>A, NM_001170536.1:c.813G>A, XM_047424288.1:c.888G>A, XM_047424290.1:c.1050G>A, XM_047424289.1:c.1050G>A, NP_060658.3:p.Met398Ile, NP_001164006.1:p.Met350Ile, NP_001164007.1:p.Met271Ile, XP_047280244.1:p.Met296Ile, XP_047280246.1:p.Met350Ile, XP_047280245.1:p.Met350Ile

Select item 14878076332.

rs1487807633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:1522840 (GRCh38)
1:1458220 (GRCh37)
Canonical SPDI:: NC_000001.11:1522839:T:C
Gene:: ATAD3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1522840T>C, NC_000001.10:g.1458220T>C, NG_053035.1:g.15698T>C, NM_018188.5:c.991T>C, NM_018188.4:c.991T>C, NM_018188.3:c.991T>C, NM_001170535.3:c.847T>C, NM_001170535.2:c.847T>C, NM_001170535.1:c.847T>C, NM_001170536.3:c.610T>C, NM_001170536.2:c.610T>C, NM_001170536.1:c.610T>C, XM_047424288.1:c.685T>C, XM_047424290.1:c.847T>C, XM_047424289.1:c.847T>C, NP_060658.3:p.Ser331Pro, NP_001164006.1:p.Ser283Pro, NP_001164007.1:p.Ser204Pro, XP_047280244.1:p.Ser229Pro, XP_047280246.1:p.Ser283Pro, XP_047280245.1:p.Ser283Pro

Select item 14864747573.

rs1486474757 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 1:1534028 (GRCh38)
1:1469409 (GRCh37)
Canonical SPDI:: NC_000001.11:1534028:AG:AGAG
Gene:: ATAD3A (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000169/2 (ALFA)
AG=0.000012/3 (GnomAD_exomes)
AG=0.000035/1 (TOMMO)
AG=0.000064/9 (GnomAD)
HGVS:: NC_000001.11:g.1534029_1534030dup, NC_000001.10:g.1469409_1469410dup, NG_053035.1:g.26887_26888dup, NM_018188.5:c.1862_1863dup, NM_018188.4:c.1862_1863dup, NM_018188.3:c.1862_1863dup, NM_001170535.3:c.1718_1719dup, NM_001170535.2:c.1718_1719dup, NM_001170535.1:c.1718_1719dup, NM_001170536.3:c.1481_1482dup, NM_001170536.2:c.1481_1482dup, NM_001170536.1:c.1481_1482dup, NG_041807.1:g.11331_11332dup, XM_047424288.1:c.1556_1557dup, NP_060658.3:p.Ala622fs, NP_001164006.1:p.Ala574fs, NP_001164007.1:p.Ala495fs, XP_047280244.1:p.Ala520fs

Select item 14864194624.

rs1486419462 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:1517320 (GRCh38)
1:1452700 (GRCh37)
Canonical SPDI:: NC_000001.11:1517319:GC:
Gene:: ATAD3A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.1517320_1517321del, NC_000001.10:g.1452700_1452701del, NG_053035.1:g.10178_10179del, NM_018188.5:c.436_437del, NM_018188.4:c.436_437del, NM_018188.3:c.436_437del, NM_001170535.3:c.292_293del, NM_001170535.2:c.292_293del, NM_001170535.1:c.292_293del, NM_001170536.3:c.55_56del, NM_001170536.2:c.55_56del, NM_001170536.1:c.55_56del, XM_047424288.1:c.130_131del, XM_047424290.1:c.292_293del, XM_047424289.1:c.292_293del, NP_060658.3:p.Ala146fs, NP_001164006.1:p.Ala98fs, NP_001164007.1:p.Ala19fs, XP_047280244.1:p.Ala44fs, XP_047280246.1:p.Ala98fs, XP_047280245.1:p.Ala98fs

Select item 14836515305.

rs1483651530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:1518922 (GRCh38)
1:1454302 (GRCh37)
Canonical SPDI:: NC_000001.11:1518921:A:G
Gene:: ATAD3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.1518922A>G, NC_000001.10:g.1454302A>G, NG_053035.1:g.11780A>G, NM_018188.5:c.590A>G, NM_018188.4:c.590A>G, NM_018188.3:c.590A>G, NM_001170535.3:c.446A>G, NM_001170535.2:c.446A>G, NM_001170535.1:c.446A>G, NM_001170536.3:c.209A>G, NM_001170536.2:c.209A>G, NM_001170536.1:c.209A>G, XM_047424288.1:c.284A>G, XM_047424290.1:c.446A>G, XM_047424289.1:c.446A>G, NP_060658.3:p.Gln197Arg, NP_001164006.1:p.Gln149Arg, NP_001164007.1:p.Gln70Arg, XP_047280244.1:p.Gln95Arg, XP_047280246.1:p.Gln149Arg, XP_047280245.1:p.Gln149Arg

Select item 14834944846.

rs1483494484 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:1517341 (GRCh38)
1:1452721 (GRCh37)
Canonical SPDI:: NC_000001.11:1517340:A:G
Gene:: ATAD3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1517341A>G, NC_000001.10:g.1452721A>G, NG_053035.1:g.10199A>G, NM_018188.5:c.457A>G, NM_018188.4:c.457A>G, NM_018188.3:c.457A>G, NM_001170535.3:c.313A>G, NM_001170535.2:c.313A>G, NM_001170535.1:c.313A>G, NM_001170536.3:c.76A>G, NM_001170536.2:c.76A>G, NM_001170536.1:c.76A>G, XM_047424288.1:c.151A>G, XM_047424290.1:c.313A>G, XM_047424289.1:c.313A>G, NP_060658.3:p.Ser153Gly, NP_001164006.1:p.Ser105Gly, NP_001164007.1:p.Ser26Gly, XP_047280244.1:p.Ser51Gly, XP_047280246.1:p.Ser105Gly, XP_047280245.1:p.Ser105Gly

Select item 14823845787.

rs1482384578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:1529291 (GRCh38)
1:1464671 (GRCh37)
Canonical SPDI:: NC_000001.11:1529290:T:C
Gene:: ATAD3A (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1529291T>C, NC_000001.10:g.1464671T>C, NG_053035.1:g.22149T>C, NM_018188.5:c.1718T>C, NM_018188.4:c.1718T>C, NM_018188.3:c.1718T>C, NM_001170535.3:c.1574T>C, NM_001170535.2:c.1574T>C, NM_001170535.1:c.1574T>C, NM_001170536.3:c.1337T>C, NM_001170536.2:c.1337T>C, NM_001170536.1:c.1337T>C, XM_047424288.1:c.1412T>C, XM_047424289.1:c.*45T>C, NP_060658.3:p.Met573Thr, NP_001164006.1:p.Met525Thr, NP_001164007.1:p.Met446Thr, XP_047280244.1:p.Met471Thr

Select item 14821758088.

rs1482175808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:1516068 (GRCh38)
1:1451448 (GRCh37)
Canonical SPDI:: NC_000001.11:1516067:G:T
Gene:: ATAD3A (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1516068G>T, NC_000001.10:g.1451448G>T, NG_053035.1:g.8926G>T, NM_018188.5:c.262G>T, NM_018188.4:c.262G>T, NM_018188.3:c.262G>T, NM_001170535.3:c.262G>T, NM_001170535.2:c.262G>T, NM_001170535.1:c.262G>T, NM_001170536.3:c.25G>T, NM_001170536.2:c.25G>T, NM_001170536.1:c.25G>T, XM_047424288.1:c.100G>T, XM_047424290.1:c.262G>T, XM_047424289.1:c.262G>T, NP_060658.3:p.Glu88Ter, NP_001164006.1:p.Glu88Ter, NP_001164007.1:p.Glu9Ter, XP_047280244.1:p.Glu34Ter, XP_047280246.1:p.Glu88Ter, XP_047280245.1:p.Glu88Ter

Select item 14814330929.

rs1481433092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:1524385 (GRCh38)
1:1459765 (GRCh37)
Canonical SPDI:: NC_000001.11:1524384:C:A
Gene:: ATAD3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1524385C>A, NC_000001.10:g.1459765C>A, NG_053035.1:g.17243C>A, NM_018188.5:c.1346C>A, NM_018188.4:c.1346C>A, NM_018188.3:c.1346C>A, NM_001170535.3:c.1202C>A, NM_001170535.2:c.1202C>A, NM_001170535.1:c.1202C>A, NM_001170536.3:c.965C>A, NM_001170536.2:c.965C>A, NM_001170536.1:c.965C>A, XM_047424288.1:c.1040C>A, XM_047424290.1:c.1202C>A, XM_047424289.1:c.1202C>A, NP_060658.3:p.Thr449Asn, NP_001164006.1:p.Thr401Asn, NP_001164007.1:p.Thr322Asn, XP_047280244.1:p.Thr347Asn, XP_047280246.1:p.Thr401Asn, XP_047280245.1:p.Thr401Asn

Select item 148142946110.

rs1481429461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:1522894 (GRCh38)
1:1458274 (GRCh37)
Canonical SPDI:: NC_000001.11:1522893:A:C,NC_000001.11:1522893:A:G
Gene:: ATAD3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1522894A>C, NC_000001.11:g.1522894A>G, NC_000001.10:g.1458274A>C, NC_000001.10:g.1458274A>G, NG_053035.1:g.15752A>C, NG_053035.1:g.15752A>G, NM_018188.5:c.1045A>C, NM_018188.5:c.1045A>G, NM_018188.4:c.1045A>C, NM_018188.4:c.1045A>G, NM_018188.3:c.1045A>C, NM_018188.3:c.1045A>G, NM_001170535.3:c.901A>C, NM_001170535.3:c.901A>G, NM_001170535.2:c.901A>C, NM_001170535.2:c.901A>G, NM_001170535.1:c.901A>C, NM_001170535.1:c.901A>G, NM_001170536.3:c.664A>C, NM_001170536.3:c.664A>G, NM_001170536.2:c.664A>C, NM_001170536.2:c.664A>G, NM_001170536.1:c.664A>C, NM_001170536.1:c.664A>G, XM_047424288.1:c.739A>C, XM_047424288.1:c.739A>G, XM_047424290.1:c.901A>C, XM_047424290.1:c.901A>G, XM_047424289.1:c.901A>C, XM_047424289.1:c.901A>G, NP_060658.3:p.Ile349Leu, NP_060658.3:p.Ile349Val, NP_001164006.1:p.Ile301Leu, NP_001164006.1:p.Ile301Val, NP_001164007.1:p.Ile222Leu, NP_001164007.1:p.Ile222Val, XP_047280244.1:p.Ile247Leu, XP_047280244.1:p.Ile247Val, XP_047280246.1:p.Ile301Leu, XP_047280246.1:p.Ile301Val, XP_047280245.1:p.Ile301Leu, XP_047280245.1:p.Ile301Val

Select item 148045206611.

rs1480452066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1523931 (GRCh38)
1:1459311 (GRCh37)
Canonical SPDI:: NC_000001.11:1523930:G:A
Gene:: ATAD3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1523931G>A, NC_000001.10:g.1459311G>A, NG_053035.1:g.16789G>A, NM_018188.5:c.1200G>A, NM_018188.4:c.1200G>A, NM_018188.3:c.1200G>A, NM_001170535.3:c.1056G>A, NM_001170535.2:c.1056G>A, NM_001170535.1:c.1056G>A, NM_001170536.3:c.819G>A, NM_001170536.2:c.819G>A, NM_001170536.1:c.819G>A, XM_047424288.1:c.894G>A, XM_047424290.1:c.1056G>A, XM_047424289.1:c.1056G>A

Select item 147653451112.

rs1476534511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1527812 (GRCh38)
1:1463192 (GRCh37)
Canonical SPDI:: NC_000001.11:1527811:G:A
Gene:: ATAD3A (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1527812G>A, NC_000001.10:g.1463192G>A, NG_053035.1:g.20670G>A, NM_018188.5:c.1599G>A, NM_018188.4:c.1599G>A, NM_018188.3:c.1599G>A, NM_001170535.3:c.1455G>A, NM_001170535.2:c.1455G>A, NM_001170535.1:c.1455G>A, NM_001170536.3:c.1218G>A, NM_001170536.2:c.1218G>A, NM_001170536.1:c.1218G>A, XM_047424288.1:c.1293G>A

Select item 147538150113.

rs1475381501 [Homo sapiens]

Variant type:: DEL
Alleles:: CGCTTGTC>- [Show Flanks]
Chromosome:: 1:1522796 (GRCh38)
1:1458176 (GRCh37)
Canonical SPDI:: NC_000001.11:1522795:CGCTTGTC:
Gene:: ATAD3A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.1522796_1522803del, NC_000001.10:g.1458176_1458183del, NG_053035.1:g.15654_15661del, NM_018188.5:c.947_954del, NM_018188.4:c.947_954del, NM_018188.3:c.947_954del, NM_001170535.3:c.803_810del, NM_001170535.2:c.803_810del, NM_001170535.1:c.803_810del, NM_001170536.3:c.566_573del, NM_001170536.2:c.566_573del, NM_001170536.1:c.566_573del, XM_047424288.1:c.641_648del, XM_047424290.1:c.803_810del, XM_047424289.1:c.803_810del, NP_060658.3:p.Thr316fs, NP_001164006.1:p.Thr268fs, NP_001164007.1:p.Thr189fs, XP_047280244.1:p.Thr214fs, XP_047280246.1:p.Thr268fs, XP_047280245.1:p.Thr268fs

Select item 147496784314.

rs1474967843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1518975 (GRCh38)
1:1454355 (GRCh37)
Canonical SPDI:: NC_000001.11:1518974:G:A
Gene:: ATAD3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1518975G>A, NC_000001.10:g.1454355G>A, NG_053035.1:g.11833G>A, NM_018188.5:c.643G>A, NM_018188.4:c.643G>A, NM_018188.3:c.643G>A, NM_001170535.3:c.499G>A, NM_001170535.2:c.499G>A, NM_001170535.1:c.499G>A, NM_001170536.3:c.262G>A, NM_001170536.2:c.262G>A, NM_001170536.1:c.262G>A, XM_047424288.1:c.337G>A, XM_047424290.1:c.499G>A, XM_047424289.1:c.499G>A, NP_060658.3:p.Glu215Lys, NP_001164006.1:p.Glu167Lys, NP_001164007.1:p.Glu88Lys, XP_047280244.1:p.Glu113Lys, XP_047280246.1:p.Glu167Lys, XP_047280245.1:p.Glu167Lys

Select item 147399019215.

rs1473990192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1517719 (GRCh38)
1:1453099 (GRCh37)
Canonical SPDI:: NC_000001.11:1517718:G:A
Gene:: ATAD3A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.1517719G>A, NC_000001.10:g.1453099G>A, NG_053035.1:g.10577G>A, NM_018188.5:c.532G>A, NM_018188.4:c.532G>A, NM_018188.3:c.532G>A, NM_001170535.3:c.388G>A, NM_001170535.2:c.388G>A, NM_001170535.1:c.388G>A, NM_001170536.3:c.151G>A, NM_001170536.2:c.151G>A, NM_001170536.1:c.151G>A, XM_047424288.1:c.226G>A, XM_047424290.1:c.388G>A, XM_047424289.1:c.388G>A, NP_060658.3:p.Ala178Thr, NP_001164006.1:p.Ala130Thr, NP_001164007.1:p.Ala51Thr, XP_047280244.1:p.Ala76Thr, XP_047280246.1:p.Ala130Thr, XP_047280245.1:p.Ala130Thr

Select item 147360932016.

rs1473609320 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:1527748 (GRCh38)
1:1463128 (GRCh37)
Canonical SPDI:: NC_000001.11:1527747:A:G
Gene:: ATAD3A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1527748A>G, NC_000001.10:g.1463128A>G, NG_053035.1:g.20606A>G, NM_018188.5:c.1535A>G, NM_018188.4:c.1535A>G, NM_018188.3:c.1535A>G, NM_001170535.3:c.1391A>G, NM_001170535.2:c.1391A>G, NM_001170535.1:c.1391A>G, NM_001170536.3:c.1154A>G, NM_001170536.2:c.1154A>G, NM_001170536.1:c.1154A>G, XM_047424288.1:c.1229A>G, XM_047424289.1:c.1391A>G, NP_060658.3:p.Asn512Ser, NP_001164006.1:p.Asn464Ser, NP_001164007.1:p.Asn385Ser, XP_047280244.1:p.Asn410Ser, XP_047280245.1:p.Asn464Ser

Select item 147210496217.

rs1472104962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1526529 (GRCh38)
1:1461909 (GRCh37)
Canonical SPDI:: NC_000001.11:1526528:C:T
Gene:: ATAD3A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.1526529C>T, NC_000001.10:g.1461909C>T, NG_053035.1:g.19387C>T, NM_018188.5:c.1479C>T, NM_018188.4:c.1479C>T, NM_018188.3:c.1479C>T, NM_001170535.3:c.1335C>T, NM_001170535.2:c.1335C>T, NM_001170535.1:c.1335C>T, NM_001170536.3:c.1098C>T, NM_001170536.2:c.1098C>T, NM_001170536.1:c.1098C>T, XM_047424288.1:c.1173C>T, XM_047424290.1:c.1335C>T, XM_047424289.1:c.1335C>T

Select item 146981950018.

rs1469819500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1522759 (GRCh38)
1:1458139 (GRCh37)
Canonical SPDI:: NC_000001.11:1522758:C:T
Gene:: ATAD3A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1522759C>T, NC_000001.10:g.1458139C>T, NG_053035.1:g.15617C>T, NM_018188.5:c.910C>T, NM_018188.4:c.910C>T, NM_018188.3:c.910C>T, NM_001170535.3:c.766C>T, NM_001170535.2:c.766C>T, NM_001170535.1:c.766C>T, NM_001170536.3:c.529C>T, NM_001170536.2:c.529C>T, NM_001170536.1:c.529C>T, XM_047424288.1:c.604C>T, XM_047424290.1:c.766C>T, XM_047424289.1:c.766C>T

Select item 146725540919.

rs1467255409 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:1534000 (GRCh38)
1:1469380 (GRCh37)
Canonical SPDI:: NC_000001.11:1533999:G:
Gene:: ATAD3A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.1534000del, NC_000001.10:g.1469380del, NG_053035.1:g.26858del, NM_018188.5:c.1833del, NM_018188.4:c.1833del, NM_018188.3:c.1833del, NM_001170535.3:c.1689del, NM_001170535.2:c.1689del, NM_001170535.1:c.1689del, NM_001170536.3:c.1452del, NM_001170536.2:c.1452del, NM_001170536.1:c.1452del, NG_041807.1:g.11361del, XM_047424288.1:c.1527del, NP_060658.3:p.Gln611fs, NP_001164006.1:p.Gln563fs, NP_001164007.1:p.Gln484fs, XP_047280244.1:p.Gln509fs

Select item 146662715420.

rs1466627154 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:1522799 (GRCh38)
1:1458179 (GRCh37)
Canonical SPDI:: NC_000001.11:1522798:TT:T
Gene:: ATAD3A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.1522800del, NC_000001.10:g.1458180del, NG_053035.1:g.15658del, NM_018188.5:c.951del, NM_018188.4:c.951del, NM_018188.3:c.951del, NM_001170535.3:c.807del, NM_001170535.2:c.807del, NM_001170535.1:c.807del, NM_001170536.3:c.570del, NM_001170536.2:c.570del, NM_001170536.1:c.570del, XM_047424288.1:c.645del, XM_047424290.1:c.807del, XM_047424289.1:c.807del, NP_060658.3:p.Val318fs, NP_001164006.1:p.Val270fs, NP_001164007.1:p.Val191fs, XP_047280244.1:p.Val216fs, XP_047280246.1:p.Val270fs, XP_047280245.1:p.Val270fs

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