SNP Links for Protein (Select 1057503096) - SNP

Select item 14905170621.

rs1490517062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:39742372 (GRCh38)
17:37898625 (GRCh37)
Canonical SPDI:: NC_000017.11:39742371:C:G
Gene:: GRB7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39742372C>G, NC_000017.10:g.37898625C>G, NG_029932.1:g.9464C>G, NM_005310.5:c.71C>G, NM_005310.4:c.71C>G, NM_005310.3:c.71C>G, NM_001030002.3:c.71C>G, NM_001030002.2:c.71C>G, NM_001242443.2:c.71C>G, NM_001242443.1:c.71C>G, NM_001242442.2:c.140C>G, NM_001242442.1:c.140C>G, NM_001330207.2:c.71C>G, NM_001330207.1:c.71C>G, XM_047435857.1:c.71C>G, NP_005301.2:p.Pro24Arg, NP_001025173.1:p.Pro24Arg, NP_001229372.1:p.Pro24Arg, NP_001229371.2:p.Pro47Arg, NP_001317136.1:p.Pro24Arg, XP_047291813.1:p.Pro24Arg

Select item 14894753042.

rs1489475304 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAGAGGGGG [Show Flanks]
Chromosome:: 17:39745780 (GRCh38)
17:37902034 (GRCh37)
Canonical SPDI:: NC_000017.11:39745780::TAGAGGGGG
Gene:: GRB7 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency
MAF:: TAGAGGGGG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39745780_39745781insTAGAGGGGG, NC_000017.10:g.37902033_37902034insTAGAGGGGG, NG_029932.1:g.12872_12873insTAGAGGGGG, NM_005310.5:c.1262_1263insTAGAGGGGG, NM_005310.4:c.1262_1263insTAGAGGGGG, NM_005310.3:c.1262_1263insTAGAGGGGG, NM_001030002.3:c.1262_1263insTAGAGGGGG, NM_001030002.2:c.1262_1263insTAGAGGGGG, NM_001242443.2:c.1262_1263insTAGAGGGGG, NM_001242443.1:c.1262_1263insTAGAGGGGG, NM_001242442.2:c.1331_1332insTAGAGGGGG, NM_001242442.1:c.1331_1332insTAGAGGGGG, NM_001330207.2:c.1262_1263insTAGAGGGGG, NM_001330207.1:c.1262_1263insTAGAGGGGG, XM_047435857.1:c.1403_1404insTAGAGGGGG, NP_005301.2:p.Ser422_Ala423insArgGlyGly, NP_001025173.1:p.Ser422_Ala423insArgGlyGly, NP_001229372.1:p.Ser422_Ala423insArgGlyGly, NP_001229371.2:p.Ser445_Ala446insArgGlyGly, NP_001317136.1:p.Ser422_Ala423insArgGlyGly, XP_047291813.1:p.Ser469_Ala470insArgGlyGly

Select item 14893458403.

rs1489345840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:39745484 (GRCh38)
17:37901737 (GRCh37)
Canonical SPDI:: NC_000017.11:39745483:T:C,NC_000017.11:39745483:T:G
Gene:: GRB7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39745484T>C, NC_000017.11:g.39745484T>G, NC_000017.10:g.37901737T>C, NC_000017.10:g.37901737T>G, NG_029932.1:g.12576T>C, NG_029932.1:g.12576T>G, NM_005310.5:c.1155T>C, NM_005310.5:c.1155T>G, NM_005310.4:c.1155T>C, NM_005310.4:c.1155T>G, NM_005310.3:c.1155T>C, NM_005310.3:c.1155T>G, NM_001030002.3:c.1155T>C, NM_001030002.3:c.1155T>G, NM_001030002.2:c.1155T>C, NM_001030002.2:c.1155T>G, NM_001242443.2:c.1155T>C, NM_001242443.2:c.1155T>G, NM_001242443.1:c.1155T>C, NM_001242443.1:c.1155T>G, NM_001242442.2:c.1224T>C, NM_001242442.2:c.1224T>G, NM_001242442.1:c.1224T>C, NM_001242442.1:c.1224T>G, NM_001330207.2:c.1155T>C, NM_001330207.2:c.1155T>G, NM_001330207.1:c.1155T>C, NM_001330207.1:c.1155T>G, XM_047435857.1:c.1296T>C, XM_047435857.1:c.1296T>G, NP_005301.2:p.Ile385Met, NP_001025173.1:p.Ile385Met, NP_001229372.1:p.Ile385Met, NP_001229371.2:p.Ile408Met, NP_001317136.1:p.Ile385Met, XP_047291813.1:p.Ile432Met

Select item 14808219824.

rs1480821982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:39742323 (GRCh38)
17:37898576 (GRCh37)
Canonical SPDI:: NC_000017.11:39742322:C:A,NC_000017.11:39742322:C:T
Gene:: GRB7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.39742323C>A, NC_000017.11:g.39742323C>T, NC_000017.10:g.37898576C>A, NC_000017.10:g.37898576C>T, NG_029932.1:g.9415C>A, NG_029932.1:g.9415C>T, NM_005310.5:c.22C>A, NM_005310.5:c.22C>T, NM_005310.4:c.22C>A, NM_005310.4:c.22C>T, NM_005310.3:c.22C>A, NM_005310.3:c.22C>T, NM_001030002.3:c.22C>A, NM_001030002.3:c.22C>T, NM_001030002.2:c.22C>A, NM_001030002.2:c.22C>T, NM_001242443.2:c.22C>A, NM_001242443.2:c.22C>T, NM_001242443.1:c.22C>A, NM_001242443.1:c.22C>T, NM_001242442.2:c.91C>A, NM_001242442.2:c.91C>T, NM_001242442.1:c.91C>A, NM_001242442.1:c.91C>T, NM_001330207.2:c.22C>A, NM_001330207.2:c.22C>T, NM_001330207.1:c.22C>A, NM_001330207.1:c.22C>T, XM_047435857.1:c.22C>A, XM_047435857.1:c.22C>T, NP_005301.2:p.Pro8Thr, NP_005301.2:p.Pro8Ser, NP_001025173.1:p.Pro8Thr, NP_001025173.1:p.Pro8Ser, NP_001229372.1:p.Pro8Thr, NP_001229372.1:p.Pro8Ser, NP_001229371.2:p.Pro31Thr, NP_001229371.2:p.Pro31Ser, NP_001317136.1:p.Pro8Thr, NP_001317136.1:p.Pro8Ser, XP_047291813.1:p.Pro8Thr, XP_047291813.1:p.Pro8Ser

Select item 14806381035.

rs1480638103 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:39742908 (GRCh38)
17:37899161 (GRCh37)
Canonical SPDI:: NC_000017.11:39742907:T:A
Gene:: GRB7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39742908T>A, NC_000017.10:g.37899161T>A, NG_029932.1:g.10000T>A, NM_005310.5:c.317T>A, NM_005310.4:c.317T>A, NM_005310.3:c.317T>A, NM_001030002.3:c.317T>A, NM_001030002.2:c.317T>A, NM_001242443.2:c.317T>A, NM_001242443.1:c.317T>A, NM_001242442.2:c.386T>A, NM_001242442.1:c.386T>A, NM_001330207.2:c.317T>A, NM_001330207.1:c.317T>A, XM_047435857.1:c.317T>A, NP_005301.2:p.Val106Glu, NP_001025173.1:p.Val106Glu, NP_001229372.1:p.Val106Glu, NP_001229371.2:p.Val129Glu, NP_001317136.1:p.Val106Glu, XP_047291813.1:p.Val106Glu

Select item 14770434696.

rs1477043469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39743262 (GRCh38)
17:37899515 (GRCh37)
Canonical SPDI:: NC_000017.11:39743261:G:A
Gene:: GRB7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39743262G>A, NC_000017.10:g.37899515G>A, NG_029932.1:g.10354G>A, NM_005310.5:c.546G>A, NM_005310.4:c.546G>A, NM_005310.3:c.546G>A, NM_001030002.3:c.546G>A, NM_001030002.2:c.546G>A, NM_001242443.2:c.546G>A, NM_001242443.1:c.546G>A, NM_001242442.2:c.615G>A, NM_001242442.1:c.615G>A, NM_001330207.2:c.546G>A, NM_001330207.1:c.546G>A, XM_047435857.1:c.546G>A

Select item 14761194907.

rs1476119490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:39743259 (GRCh38)
17:37899512 (GRCh37)
Canonical SPDI:: NC_000017.11:39743258:C:A
Gene:: GRB7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39743259C>A, NC_000017.10:g.37899512C>A, NG_029932.1:g.10351C>A, NM_005310.5:c.543C>A, NM_005310.4:c.543C>A, NM_005310.3:c.543C>A, NM_001030002.3:c.543C>A, NM_001030002.2:c.543C>A, NM_001242443.2:c.543C>A, NM_001242443.1:c.543C>A, NM_001242442.2:c.612C>A, NM_001242442.1:c.612C>A, NM_001330207.2:c.543C>A, NM_001330207.1:c.543C>A, XM_047435857.1:c.543C>A, NP_005301.2:p.Phe181Leu, NP_001025173.1:p.Phe181Leu, NP_001229372.1:p.Phe181Leu, NP_001229371.2:p.Phe204Leu, NP_001317136.1:p.Phe181Leu, XP_047291813.1:p.Phe181Leu

Select item 14746861798.

rs1474686179 [Homo sapiens]

Variant type:: INS
Alleles:: ->GCCCTGATCTGGCCACCTGAGAC [Show Flanks]
Chromosome:: 17:39745785 (GRCh38)
17:37902039 (GRCh37)
Canonical SPDI:: NC_000017.11:39745785::GCCCTGATCTGGCCACCTGAGAC
Gene:: GRB7 (Varview)
Functional Consequence:: stop_gained,inframe_indel,coding_sequence_variant
HGVS:: NC_000017.11:g.39745785_39745786insGCCCTGATCTGGCCACCTGAGAC, NC_000017.10:g.37902038_37902039insGCCCTGATCTGGCCACCTGAGAC, NG_029932.1:g.12877_12878insGCCCTGATCTGGCCACCTGAGAC, NM_005310.5:c.1267_1268insGCCCTGATCTGGCCACCTGAGAC, NM_005310.4:c.1267_1268insGCCCTGATCTGGCCACCTGAGAC, NM_005310.3:c.1267_1268insGCCCTGATCTGGCCACCTGAGAC, NM_001030002.3:c.1267_1268insGCCCTGATCTGGCCACCTGAGAC, NM_001030002.2:c.1267_1268insGCCCTGATCTGGCCACCTGAGAC, NM_001242443.2:c.1267_1268insGCCCTGATCTGGCCACCTGAGAC, NM_001242443.1:c.1267_1268insGCCCTGATCTGGCCACCTGAGAC, NM_001242442.2:c.1336_1337insGCCCTGATCTGGCCACCTGAGAC, NM_001242442.1:c.1336_1337insGCCCTGATCTGGCCACCTGAGAC, NM_001330207.2:c.1267_1268insGCCCTGATCTGGCCACCTGAGAC, NM_001330207.1:c.1267_1268insGCCCTGATCTGGCCACCTGAGAC, XM_047435857.1:c.1408_1409insGCCCTGATCTGGCCACCTGAGAC, NP_005301.2:p.Ala423delinsGlyProAspLeuAlaThrTer, NP_001025173.1:p.Ala423delinsGlyProAspLeuAlaThrTer, NP_001229372.1:p.Ala423delinsGlyProAspLeuAlaThrTer, NP_001229371.2:p.Ala446delinsGlyProAspLeuAlaThrTer, NP_001317136.1:p.Ala423delinsGlyProAspLeuAlaThrTer, XP_047291813.1:p.Ala470delinsGlyProAspLeuAlaThrTer

Select item 14717552989.

rs1471755298 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 17:39744162 (GRCh38)
17:37900415 (GRCh37)
Canonical SPDI:: NC_000017.11:39744158:CTTCTT:CTT
Gene:: GRB7 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
HGVS:: NC_000017.11:g.39744159CTT[1], NC_000017.10:g.37900412CTT[1], NG_029932.1:g.11251CTT[1], NM_005310.5:c.753CTT[1], NM_005310.4:c.753CTT[1], NM_005310.3:c.753CTT[1], NM_001030002.3:c.753CTT[1], NM_001030002.2:c.753CTT[1], NM_001242443.2:c.753CTT[1], NM_001242443.1:c.753CTT[1], NM_001242442.2:c.822CTT[1], NM_001242442.1:c.822CTT[1], NM_001330207.2:c.753CTT[1], NM_001330207.1:c.753CTT[1], XM_047435857.1:c.753CTT[1], NP_005301.2:p.Phe252del, NP_001025173.1:p.Phe252del, NP_001229372.1:p.Phe252del, NP_001229371.2:p.Phe275del, NP_001317136.1:p.Phe252del, XP_047291813.1:p.Phe252del

Select item 146752728710.

rs1467527287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39744577 (GRCh38)
17:37900830 (GRCh37)
Canonical SPDI:: NC_000017.11:39744576:G:A
Gene:: GRB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.39744577G>A, NC_000017.10:g.37900830G>A, NG_029932.1:g.11669G>A, NM_005310.5:c.826G>A, NM_005310.4:c.826G>A, NM_005310.3:c.826G>A, NM_001030002.3:c.826G>A, NM_001030002.2:c.826G>A, NM_001242443.2:c.826G>A, NM_001242443.1:c.826G>A, NM_001242442.2:c.895G>A, NM_001242442.1:c.895G>A, NM_001330207.2:c.826G>A, NM_001330207.1:c.826G>A, XM_047435857.1:c.826G>A, NP_005301.2:p.Ala276Thr, NP_001025173.1:p.Ala276Thr, NP_001229372.1:p.Ala276Thr, NP_001229371.2:p.Ala299Thr, NP_001317136.1:p.Ala276Thr, XP_047291813.1:p.Ala276Thr

Select item 146698502511.

rs1466985025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:39744556 (GRCh38)
17:37900809 (GRCh37)
Canonical SPDI:: NC_000017.11:39744555:C:G
Gene:: GRB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39744556C>G, NC_000017.10:g.37900809C>G, NG_029932.1:g.11648C>G, NM_005310.5:c.805C>G, NM_005310.4:c.805C>G, NM_005310.3:c.805C>G, NM_001030002.3:c.805C>G, NM_001030002.2:c.805C>G, NM_001242443.2:c.805C>G, NM_001242443.1:c.805C>G, NM_001242442.2:c.874C>G, NM_001242442.1:c.874C>G, NM_001330207.2:c.805C>G, NM_001330207.1:c.805C>G, XM_047435857.1:c.805C>G, NP_005301.2:p.Pro269Ala, NP_001025173.1:p.Pro269Ala, NP_001229372.1:p.Pro269Ala, NP_001229371.2:p.Pro292Ala, NP_001317136.1:p.Pro269Ala, XP_047291813.1:p.Pro269Ala

Select item 146440194312.

rs1464401943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:39743224 (GRCh38)
17:37899477 (GRCh37)
Canonical SPDI:: NC_000017.11:39743223:G:C
Gene:: GRB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39743224G>C, NC_000017.10:g.37899477G>C, NG_029932.1:g.10316G>C, NM_005310.5:c.508G>C, NM_005310.4:c.508G>C, NM_005310.3:c.508G>C, NM_001030002.3:c.508G>C, NM_001030002.2:c.508G>C, NM_001242443.2:c.508G>C, NM_001242443.1:c.508G>C, NM_001242442.2:c.577G>C, NM_001242442.1:c.577G>C, NM_001330207.2:c.508G>C, NM_001330207.1:c.508G>C, XM_047435857.1:c.508G>C, NP_005301.2:p.Ala170Pro, NP_001025173.1:p.Ala170Pro, NP_001229372.1:p.Ala170Pro, NP_001229371.2:p.Ala193Pro, NP_001317136.1:p.Ala170Pro, XP_047291813.1:p.Ala170Pro

Select item 146406784613.

rs1464067846 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:39743186 (GRCh38)
17:37899439 (GRCh37)
Canonical SPDI:: NC_000017.11:39743185:G:C
Gene:: GRB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39743186G>C, NC_000017.10:g.37899439G>C, NG_029932.1:g.10278G>C, NM_005310.5:c.470G>C, NM_005310.4:c.470G>C, NM_005310.3:c.470G>C, NM_001030002.3:c.470G>C, NM_001030002.2:c.470G>C, NM_001242443.2:c.470G>C, NM_001242443.1:c.470G>C, NM_001242442.2:c.539G>C, NM_001242442.1:c.539G>C, NM_001330207.2:c.470G>C, NM_001330207.1:c.470G>C, XM_047435857.1:c.470G>C, NP_005301.2:p.Gly157Ala, NP_001025173.1:p.Gly157Ala, NP_001229372.1:p.Gly157Ala, NP_001229371.2:p.Gly180Ala, NP_001317136.1:p.Gly157Ala, XP_047291813.1:p.Gly157Ala

Select item 146308687114.

rs1463086871 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:39744085 (GRCh38)
17:37900338 (GRCh37)
Canonical SPDI:: NC_000017.11:39744084:GG:G
Gene:: GRB7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.39744086del, NC_000017.10:g.37900339del, NG_029932.1:g.11178del, NM_005310.5:c.680del, NM_005310.4:c.680del, NM_005310.3:c.680del, NM_001030002.3:c.680del, NM_001030002.2:c.680del, NM_001242443.2:c.680del, NM_001242443.1:c.680del, NM_001242442.2:c.749del, NM_001242442.1:c.749del, NM_001330207.2:c.680del, NM_001330207.1:c.680del, XM_047435857.1:c.680del, NP_005301.2:p.Gly227fs, NP_001025173.1:p.Gly227fs, NP_001229372.1:p.Gly227fs, NP_001229371.2:p.Gly250fs, NP_001317136.1:p.Gly227fs, XP_047291813.1:p.Gly227fs

Select item 146105115415.

rs1461051154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:39745473 (GRCh38)
17:37901726 (GRCh37)
Canonical SPDI:: NC_000017.11:39745472:G:A,NC_000017.11:39745472:G:T
Gene:: GRB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.39745473G>A, NC_000017.11:g.39745473G>T, NC_000017.10:g.37901726G>A, NC_000017.10:g.37901726G>T, NG_029932.1:g.12565G>A, NG_029932.1:g.12565G>T, NM_005310.5:c.1144G>A, NM_005310.5:c.1144G>T, NM_005310.4:c.1144G>A, NM_005310.4:c.1144G>T, NM_005310.3:c.1144G>A, NM_005310.3:c.1144G>T, NM_001030002.3:c.1144G>A, NM_001030002.3:c.1144G>T, NM_001030002.2:c.1144G>A, NM_001030002.2:c.1144G>T, NM_001242443.2:c.1144G>A, NM_001242443.2:c.1144G>T, NM_001242443.1:c.1144G>A, NM_001242443.1:c.1144G>T, NM_001242442.2:c.1213G>A, NM_001242442.2:c.1213G>T, NM_001242442.1:c.1213G>A, NM_001242442.1:c.1213G>T, NM_001330207.2:c.1144G>A, NM_001330207.2:c.1144G>T, NM_001330207.1:c.1144G>A, NM_001330207.1:c.1144G>T, XM_047435857.1:c.1285G>A, XM_047435857.1:c.1285G>T, NP_005301.2:p.Gly382Arg, NP_005301.2:p.Gly382Trp, NP_001025173.1:p.Gly382Arg, NP_001025173.1:p.Gly382Trp, NP_001229372.1:p.Gly382Arg, NP_001229372.1:p.Gly382Trp, NP_001229371.2:p.Gly405Arg, NP_001229371.2:p.Gly405Trp, NP_001317136.1:p.Gly382Arg, NP_001317136.1:p.Gly382Trp, XP_047291813.1:p.Gly429Arg, XP_047291813.1:p.Gly429Trp

Select item 145873960916.

rs1458739609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39745507 (GRCh38)
17:37901760 (GRCh37)
Canonical SPDI:: NC_000017.11:39745506:G:A
Gene:: GRB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.39745507G>A, NC_000017.10:g.37901760G>A, NG_029932.1:g.12599G>A, NM_005310.5:c.1178G>A, NM_005310.4:c.1178G>A, NM_005310.3:c.1178G>A, NM_001030002.3:c.1178G>A, NM_001030002.2:c.1178G>A, NM_001242443.2:c.1178G>A, NM_001242443.1:c.1178G>A, NM_001242442.2:c.1247G>A, NM_001242442.1:c.1247G>A, NM_001330207.2:c.1178G>A, NM_001330207.1:c.1178G>A, XM_047435857.1:c.1319G>A, NP_005301.2:p.Ser393Asn, NP_001025173.1:p.Ser393Asn, NP_001229372.1:p.Ser393Asn, NP_001229371.2:p.Ser416Asn, NP_001317136.1:p.Ser393Asn, XP_047291813.1:p.Ser440Asn

Select item 145517531617.

rs1455175316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39744115 (GRCh38)
17:37900368 (GRCh37)
Canonical SPDI:: NC_000017.11:39744114:C:T
Gene:: GRB7 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.39744115C>T, NC_000017.10:g.37900368C>T, NG_029932.1:g.11207C>T, NM_005310.5:c.709C>T, NM_005310.4:c.709C>T, NM_005310.3:c.709C>T, NM_001030002.3:c.709C>T, NM_001030002.2:c.709C>T, NM_001242443.2:c.709C>T, NM_001242443.1:c.709C>T, NM_001242442.2:c.778C>T, NM_001242442.1:c.778C>T, NM_001330207.2:c.709C>T, NM_001330207.1:c.709C>T, XM_047435857.1:c.709C>T, NP_005301.2:p.Gln237Ter, NP_001025173.1:p.Gln237Ter, NP_001229372.1:p.Gln237Ter, NP_001229371.2:p.Gln260Ter, NP_001317136.1:p.Gln237Ter, XP_047291813.1:p.Gln237Ter

Select item 145346783418.

rs1453467834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:39745427 (GRCh38)
17:37901680 (GRCh37)
Canonical SPDI:: NC_000017.11:39745426:T:C,NC_000017.11:39745426:T:G
Gene:: GRB7 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39745427T>C, NC_000017.11:g.39745427T>G, NC_000017.10:g.37901680T>C, NC_000017.10:g.37901680T>G, NG_029932.1:g.12519T>C, NG_029932.1:g.12519T>G, NM_005310.5:c.1098T>C, NM_005310.5:c.1098T>G, NM_005310.4:c.1098T>C, NM_005310.4:c.1098T>G, NM_005310.3:c.1098T>C, NM_005310.3:c.1098T>G, NM_001030002.3:c.1098T>C, NM_001030002.3:c.1098T>G, NM_001030002.2:c.1098T>C, NM_001030002.2:c.1098T>G, NM_001242443.2:c.1098T>C, NM_001242443.2:c.1098T>G, NM_001242443.1:c.1098T>C, NM_001242443.1:c.1098T>G, NM_001242442.2:c.1167T>C, NM_001242442.2:c.1167T>G, NM_001242442.1:c.1167T>C, NM_001242442.1:c.1167T>G, NM_001330207.2:c.1098T>C, NM_001330207.2:c.1098T>G, NM_001330207.1:c.1098T>C, NM_001330207.1:c.1098T>G, XM_047435857.1:c.1239T>C, XM_047435857.1:c.1239T>G, NP_005301.2:p.Ser366Arg, NP_001025173.1:p.Ser366Arg, NP_001229372.1:p.Ser366Arg, NP_001229371.2:p.Ser389Arg, NP_001317136.1:p.Ser366Arg, XP_047291813.1:p.Ser413Arg

Select item 145132817019.

rs1451328170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:39743408 (GRCh38)
17:37899661 (GRCh37)
Canonical SPDI:: NC_000017.11:39743407:G:C
Gene:: GRB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.39743408G>C, NC_000017.10:g.37899661G>C, NG_029932.1:g.10500G>C, NM_005310.5:c.601G>C, NM_005310.4:c.601G>C, NM_005310.3:c.601G>C, NM_001030002.3:c.601G>C, NM_001030002.2:c.601G>C, NM_001242443.2:c.601G>C, NM_001242443.1:c.601G>C, NM_001242442.2:c.670G>C, NM_001242442.1:c.670G>C, NM_001330207.2:c.601G>C, NM_001330207.1:c.601G>C, XM_047435857.1:c.601G>C, NP_005301.2:p.Glu201Gln, NP_001025173.1:p.Glu201Gln, NP_001229372.1:p.Glu201Gln, NP_001229371.2:p.Glu224Gln, NP_001317136.1:p.Glu201Gln, XP_047291813.1:p.Glu201Gln

Select item 144906333920.

rs1449063339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39745520 (GRCh38)
17:37901773 (GRCh37)
Canonical SPDI:: NC_000017.11:39745519:G:A
Gene:: GRB7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000017.11:g.39745520G>A, NC_000017.10:g.37901773G>A, NG_029932.1:g.12612G>A, NM_005310.5:c.1191G>A, NM_005310.4:c.1191G>A, NM_005310.3:c.1191G>A, NM_001030002.3:c.1191G>A, NM_001030002.2:c.1191G>A, NM_001242443.2:c.1191G>A, NM_001242443.1:c.1191G>A, NM_001242442.2:c.1260G>A, NM_001242442.1:c.1260G>A, NM_001330207.2:c.1191G>A, NM_001330207.1:c.1191G>A, XM_047435857.1:c.1332G>A

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Result Filters

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Validation Status

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Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 480

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