SNP Links for Protein (Select 768032678) - SNP

Links from Protein

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Select item 14606421421.

rs1460642142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:13716059 (GRCh38)
X:13734178 (GRCh37)
Canonical SPDI:: NC_000023.11:13716058:C:A
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.13716059C>A, NC_000023.10:g.13734178C>A, NG_011555.1:g.23565G>T, NM_014563.6:c.269G>T, NM_014563.5:c.269G>T, NM_001011658.4:c.269G>T, NM_001011658.3:c.269G>T, NM_001128835.3:c.371G>T, NM_001128835.2:c.371G>T, XM_011545566.3:c.269G>T, XM_011545566.2:c.269G>T, XM_011545566.1:c.269G>T, XM_047442352.1:c.269G>T, XM_047442351.1:c.269G>T, NP_055378.1:p.Arg90Ile, NP_001011658.1:p.Arg90Ile, NP_001122307.2:p.Arg124Ile, XP_011543868.1:p.Arg90Ile, XP_047298308.1:p.Arg90Ile, XP_047298307.1:p.Arg90Ile

Select item 14598334642.

rs1459833464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:13719942 (GRCh38)
X:13738061 (GRCh37)
Canonical SPDI:: NC_000023.11:13719941:C:T
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.13719942C>T, NC_000023.10:g.13738061C>T, NG_011555.1:g.19682G>A, NM_014563.6:c.22G>A, NM_014563.5:c.22G>A, NM_001011658.4:c.22G>A, NM_001011658.3:c.22G>A, NM_001128835.3:c.124G>A, NM_001128835.2:c.124G>A, XM_011545566.3:c.22G>A, XM_011545566.2:c.22G>A, XM_011545566.1:c.22G>A, XM_047442352.1:c.22G>A, XM_047442351.1:c.22G>A, NP_055378.1:p.Val8Ile, NP_001011658.1:p.Val8Ile, NP_001122307.2:p.Val42Ile, XP_011543868.1:p.Val8Ile, XP_047298308.1:p.Val8Ile, XP_047298307.1:p.Val8Ile

Select item 14353821453.

rs1435382145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13714479 (GRCh38)
X:13732598 (GRCh37)
Canonical SPDI:: NC_000023.11:13714478:G:A
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.13714479G>A, NC_000023.10:g.13732598G>A, NG_011555.1:g.25145C>T, NM_014563.6:c.351C>T, NM_014563.5:c.351C>T, NM_001011658.4:c.351C>T, NM_001011658.3:c.351C>T, NM_001128835.3:c.453C>T, NM_001128835.2:c.453C>T, XM_011545566.3:c.351C>T, XM_011545566.2:c.351C>T, XM_011545566.1:c.351C>T, XM_047442352.1:c.351C>T, XM_047442351.1:c.351C>T

Select item 14332020134.

rs1433202013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:13714465 (GRCh38)
X:13732584 (GRCh37)
Canonical SPDI:: NC_000023.11:13714464:C:T
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.13714465C>T, NC_000023.10:g.13732584C>T, NG_011555.1:g.25159G>A, NM_014563.6:c.365G>A, NM_014563.5:c.365G>A, NM_001011658.4:c.365G>A, NM_001011658.3:c.365G>A, NM_001128835.3:c.467G>A, NM_001128835.2:c.467G>A, XM_011545566.3:c.365G>A, XM_011545566.2:c.365G>A, XM_011545566.1:c.365G>A, XM_047442352.1:c.365G>A, XM_047442351.1:c.365G>A, NP_055378.1:p.Arg122Gln, NP_001011658.1:p.Arg122Gln, NP_001122307.2:p.Arg156Gln, XP_011543868.1:p.Arg122Gln, XP_047298308.1:p.Arg122Gln, XP_047298307.1:p.Arg122Gln

Select item 14258421375.

rs1425842137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:13714420 (GRCh38)
X:13732539 (GRCh37)
Canonical SPDI:: NC_000023.11:13714419:T:C,NC_000023.11:13714419:T:G
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.13714420T>C, NC_000023.11:g.13714420T>G, NC_000023.10:g.13732539T>C, NC_000023.10:g.13732539T>G, NG_011555.1:g.25204A>G, NG_011555.1:g.25204A>C, NM_014563.6:c.410A>G, NM_014563.6:c.410A>C, NM_014563.5:c.410A>G, NM_014563.5:c.410A>C, NM_001011658.4:c.410A>G, NM_001011658.4:c.410A>C, NM_001011658.3:c.410A>G, NM_001011658.3:c.410A>C, NM_001128835.3:c.512A>G, NM_001128835.3:c.512A>C, NM_001128835.2:c.512A>G, NM_001128835.2:c.512A>C, XM_011545566.3:c.410A>G, XM_011545566.3:c.410A>C, XM_011545566.2:c.410A>G, XM_011545566.2:c.410A>C, XM_011545566.1:c.410A>G, XM_011545566.1:c.410A>C, XM_047442352.1:c.410A>G, XM_047442352.1:c.410A>C, XM_047442351.1:c.410A>G, XM_047442351.1:c.410A>C, NP_055378.1:p.His137Arg, NP_055378.1:p.His137Pro, NP_001011658.1:p.His137Arg, NP_001011658.1:p.His137Pro, NP_001122307.2:p.His171Arg, NP_001122307.2:p.His171Pro, XP_011543868.1:p.His137Arg, XP_011543868.1:p.His137Pro, XP_047298308.1:p.His137Arg, XP_047298308.1:p.His137Pro, XP_047298307.1:p.His137Arg, XP_047298307.1:p.His137Pro

Select item 13971835696.

rs1397183569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:13714492 (GRCh38)
X:13732611 (GRCh37)
Canonical SPDI:: NC_000023.11:13714491:G:C
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.13714492G>C, NC_000023.10:g.13732611G>C, NG_011555.1:g.25132C>G, NM_014563.6:c.338C>G, NM_014563.5:c.338C>G, NM_001011658.4:c.338C>G, NM_001011658.3:c.338C>G, NM_001128835.3:c.440C>G, NM_001128835.2:c.440C>G, XM_011545566.3:c.338C>G, XM_011545566.2:c.338C>G, XM_011545566.1:c.338C>G, XM_047442352.1:c.338C>G, XM_047442351.1:c.338C>G, NP_055378.1:p.Pro113Arg, NP_001011658.1:p.Pro113Arg, NP_001122307.2:p.Pro147Arg, XP_011543868.1:p.Pro113Arg, XP_047298308.1:p.Pro113Arg, XP_047298307.1:p.Pro113Arg

Select item 13886100687.

rs1388610068 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:13716089 (GRCh38)
X:13734208 (GRCh37)
Canonical SPDI:: NC_000023.11:13716088:T:C
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.13716089T>C, NC_000023.10:g.13734208T>C, NG_011555.1:g.23535A>G, NM_014563.6:c.239A>G, NM_014563.5:c.239A>G, NM_001011658.4:c.239A>G, NM_001011658.3:c.239A>G, NM_001128835.3:c.341A>G, NM_001128835.2:c.341A>G, XM_011545566.3:c.239A>G, XM_011545566.2:c.239A>G, XM_011545566.1:c.239A>G, XM_047442352.1:c.239A>G, XM_047442351.1:c.239A>G, NP_055378.1:p.His80Arg, NP_001011658.1:p.His80Arg, NP_001122307.2:p.His114Arg, XP_011543868.1:p.His80Arg, XP_047298308.1:p.His80Arg, XP_047298307.1:p.His80Arg

Select item 13822434678.

rs1382243467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:13714477 (GRCh38)
X:13732596 (GRCh37)
Canonical SPDI:: NC_000023.11:13714476:T:C
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.13714477T>C, NC_000023.10:g.13732596T>C, NG_011555.1:g.25147A>G, NM_014563.6:c.353A>G, NM_014563.5:c.353A>G, NM_001011658.4:c.353A>G, NM_001011658.3:c.353A>G, NM_001128835.3:c.455A>G, NM_001128835.2:c.455A>G, XM_011545566.3:c.353A>G, XM_011545566.2:c.353A>G, XM_011545566.1:c.353A>G, XM_047442352.1:c.353A>G, XM_047442351.1:c.353A>G, NP_055378.1:p.Asn118Ser, NP_001011658.1:p.Asn118Ser, NP_001122307.2:p.Asn152Ser, XP_011543868.1:p.Asn118Ser, XP_047298308.1:p.Asn118Ser, XP_047298307.1:p.Asn118Ser

Select item 13749606889.

rs1374960688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:13716673 (GRCh38)
X:13734792 (GRCh37)
Canonical SPDI:: NC_000023.11:13716672:G:C
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.13716673G>C, NC_000023.10:g.13734792G>C, NG_011555.1:g.22951C>G, NM_014563.6:c.99C>G, NM_014563.5:c.99C>G, NM_001011658.4:c.99C>G, NM_001011658.3:c.99C>G, NM_001128835.3:c.201C>G, NM_001128835.2:c.201C>G, XM_011545566.3:c.99C>G, XM_011545566.2:c.99C>G, XM_011545566.1:c.99C>G, XM_047442352.1:c.99C>G, XM_047442351.1:c.99C>G, NP_055378.1:p.Asp33Glu, NP_001011658.1:p.Asp33Glu, NP_001122307.2:p.Asp67Glu, XP_011543868.1:p.Asp33Glu, XP_047298308.1:p.Asp33Glu, XP_047298307.1:p.Asp33Glu

Select item 134838378010.

rs1348383780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13716037 (GRCh38)
X:13734156 (GRCh37)
Canonical SPDI:: NC_000023.11:13716036:G:A
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000023.11:g.13716037G>A, NC_000023.10:g.13734156G>A, NG_011555.1:g.23587C>T, NM_014563.6:c.291C>T, NM_014563.5:c.291C>T, NM_001011658.4:c.291C>T, NM_001011658.3:c.291C>T, NM_001128835.3:c.393C>T, NM_001128835.2:c.393C>T, XM_011545566.3:c.291C>T, XM_011545566.2:c.291C>T, XM_011545566.1:c.291C>T, XM_047442352.1:c.291C>T, XM_047442351.1:c.291C>T

Select item 134474513011.

rs1344745130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:13716597 (GRCh38)
X:13734716 (GRCh37)
Canonical SPDI:: NC_000023.11:13716596:T:C
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.13716597T>C, NC_000023.10:g.13734716T>C, NG_011555.1:g.23027A>G, NM_014563.6:c.175A>G, NM_014563.5:c.175A>G, NM_001011658.4:c.175A>G, NM_001011658.3:c.175A>G, NM_001128835.3:c.277A>G, NM_001128835.2:c.277A>G, XM_011545566.3:c.175A>G, XM_011545566.2:c.175A>G, XM_011545566.1:c.175A>G, XM_047442352.1:c.175A>G, XM_047442351.1:c.175A>G, NP_055378.1:p.Met59Val, NP_001011658.1:p.Met59Val, NP_001122307.2:p.Met93Val, XP_011543868.1:p.Met59Val, XP_047298308.1:p.Met59Val, XP_047298307.1:p.Met59Val

Select item 134402983612.

rs1344029836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:13719913 (GRCh38)
X:13738032 (GRCh37)
Canonical SPDI:: NC_000023.11:13719912:A:G
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.13719913A>G, NC_000023.10:g.13738032A>G, NG_011555.1:g.19711T>C, NM_014563.6:c.51T>C, NM_014563.5:c.51T>C, NM_001011658.4:c.51T>C, NM_001011658.3:c.51T>C, NM_001128835.3:c.153T>C, NM_001128835.2:c.153T>C, XM_011545566.3:c.51T>C, XM_011545566.2:c.51T>C, XM_011545566.1:c.51T>C, XM_047442352.1:c.51T>C, XM_047442351.1:c.51T>C

Select item 132521778713.

rs1325217787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:13716013 (GRCh38)
X:13734132 (GRCh37)
Canonical SPDI:: NC_000023.11:13716012:T:C
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.13716013T>C, NC_000023.10:g.13734132T>C, NG_011555.1:g.23611A>G, NM_014563.6:c.315A>G, NM_014563.5:c.315A>G, NM_001011658.4:c.315A>G, NM_001011658.3:c.315A>G, NM_001128835.3:c.417A>G, NM_001128835.2:c.417A>G, XM_011545566.3:c.315A>G, XM_011545566.2:c.315A>G, XM_011545566.1:c.315A>G, XM_047442352.1:c.315A>G, XM_047442351.1:c.315A>G

Select item 132473934614.

rs1324739346 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:13714464 (GRCh38)
X:13732583 (GRCh37)
Canonical SPDI:: NC_000023.11:13714463:T:C
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.13714464T>C, NC_000023.10:g.13732583T>C, NG_011555.1:g.25160A>G, NM_014563.6:c.366A>G, NM_014563.5:c.366A>G, NM_001011658.4:c.366A>G, NM_001011658.3:c.366A>G, NM_001128835.3:c.468A>G, NM_001128835.2:c.468A>G, XM_011545566.3:c.366A>G, XM_011545566.2:c.366A>G, XM_011545566.1:c.366A>G, XM_047442352.1:c.366A>G, XM_047442351.1:c.366A>G

Select item 131678387415.

rs1316783874 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: X:13719896 (GRCh38)
X:13738015 (GRCh37)
Canonical SPDI:: NC_000023.11:13719895:AAAAA:AAAA
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000023.11:g.13719900del, NC_000023.10:g.13738019del, NG_011555.1:g.19728del, NM_014563.6:c.68del, NM_014563.5:c.68del, NM_001011658.4:c.68del, NM_001011658.3:c.68del, NM_001128835.3:c.170del, NM_001128835.2:c.170del, XM_011545566.3:c.68del, XM_011545566.2:c.68del, XM_011545566.1:c.68del, XM_047442352.1:c.68del, XM_047442351.1:c.68del, NP_055378.1:p.Leu23fs, NP_001011658.1:p.Leu23fs, NP_001122307.2:p.Leu57fs, XP_011543868.1:p.Leu23fs, XP_047298308.1:p.Leu23fs, XP_047298307.1:p.Leu23fs

Select item 131409399516.

rs1314093995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13719893 (GRCh38)
X:13738012 (GRCh37)
Canonical SPDI:: NC_000023.11:13719892:G:A
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000023.11:g.13719893G>A, NC_000023.10:g.13738012G>A, NG_011555.1:g.19731C>T, NM_014563.6:c.71C>T, NM_014563.5:c.71C>T, NM_001011658.4:c.71C>T, NM_001011658.3:c.71C>T, NM_001128835.3:c.173C>T, NM_001128835.2:c.173C>T, XM_011545566.3:c.71C>T, XM_011545566.2:c.71C>T, XM_011545566.1:c.71C>T, XM_047442352.1:c.71C>T, XM_047442351.1:c.71C>T, NP_055378.1:p.Pro24Leu, NP_001011658.1:p.Pro24Leu, NP_001122307.2:p.Pro58Leu, XP_011543868.1:p.Pro24Leu, XP_047298308.1:p.Pro24Leu, XP_047298307.1:p.Pro24Leu

Select item 130859011117.

rs1308590111 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: X:13716601 (GRCh38)
X:13734720 (GRCh37)
Canonical SPDI:: NC_000023.11:13716596:TGTTGTT:TGTT
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.13716598GTT[1], NC_000023.10:g.13734717GTT[1], NG_011555.1:g.23022ACA[1], NM_014563.6:c.170ACA[1], NM_014563.5:c.170ACA[1], NM_001011658.4:c.170ACA[1], NM_001011658.3:c.170ACA[1], NM_001128835.3:c.272ACA[1], NM_001128835.2:c.272ACA[1], XM_011545566.3:c.170ACA[1], XM_011545566.2:c.170ACA[1], XM_011545566.1:c.170ACA[1], XM_047442352.1:c.170ACA[1], XM_047442351.1:c.170ACA[1], NP_055378.1:p.Asn58del, NP_001011658.1:p.Asn58del, NP_001122307.2:p.Asn92del, XP_011543868.1:p.Asn58del, XP_047298308.1:p.Asn58del, XP_047298307.1:p.Asn58del

Select item 129171403718.

rs1291714037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13716634 (GRCh38)
X:13734753 (GRCh37)
Canonical SPDI:: NC_000023.11:13716633:G:A
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000028/5 (GnomAD_exomes)
HGVS:: NC_000023.11:g.13716634G>A, NC_000023.10:g.13734753G>A, NG_011555.1:g.22990C>T, NM_014563.6:c.138C>T, NM_014563.5:c.138C>T, NM_001011658.4:c.138C>T, NM_001011658.3:c.138C>T, NM_001128835.3:c.240C>T, NM_001128835.2:c.240C>T, XM_011545566.3:c.138C>T, XM_011545566.2:c.138C>T, XM_011545566.1:c.138C>T, XM_047442352.1:c.138C>T, XM_047442351.1:c.138C>T

Select item 128314080019.

rs1283140800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:13719901 (GRCh38)
X:13738020 (GRCh37)
Canonical SPDI:: NC_000023.11:13719900:C:T
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.13719901C>T, NC_000023.10:g.13738020C>T, NG_011555.1:g.19723G>A, NM_014563.6:c.63G>A, NM_014563.5:c.63G>A, NM_001011658.4:c.63G>A, NM_001011658.3:c.63G>A, NM_001128835.3:c.165G>A, NM_001128835.2:c.165G>A, XM_011545566.3:c.63G>A, XM_011545566.2:c.63G>A, XM_011545566.1:c.63G>A, XM_047442352.1:c.63G>A, XM_047442351.1:c.63G>A

Select item 127891366020.

rs1278913660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:13716029 (GRCh38)
X:13734148 (GRCh37)
Canonical SPDI:: NC_000023.11:13716028:G:A
Gene:: TRAPPC2 (Varview), OFD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.13716029G>A, NC_000023.10:g.13734148G>A, NG_011555.1:g.23595C>T, NM_014563.6:c.299C>T, NM_014563.5:c.299C>T, NM_001011658.4:c.299C>T, NM_001011658.3:c.299C>T, NM_001128835.3:c.401C>T, NM_001128835.2:c.401C>T, XM_011545566.3:c.299C>T, XM_011545566.2:c.299C>T, XM_011545566.1:c.299C>T, XM_047442352.1:c.299C>T, XM_047442351.1:c.299C>T, NP_055378.1:p.Thr100Ile, NP_001011658.1:p.Thr100Ile, NP_001122307.2:p.Thr134Ile, XP_011543868.1:p.Thr100Ile, XP_047298308.1:p.Thr100Ile, XP_047298307.1:p.Thr100Ile

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