SNP Links for Protein (Select 30023847) - SNP

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Links from Protein

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Select item 14905659951.

rs1490565995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136204936 (GRCh38)
9:139096782 (GRCh37)
Canonical SPDI:: NC_000009.12:136204935:C:T
Gene:: LHX3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.136204936C>T, NC_000009.11:g.139096782C>T, NG_008097.1:g.5174G>A, NM_178138.6:c.77G>A, NM_178138.5:c.77G>A, NM_178138.4:c.77G>A, NP_835258.1:p.Arg26Gln

Select item 14892392742.

rs1489239274 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 9:136198817 (GRCh38)
9:139090663 (GRCh37)
Canonical SPDI:: NC_000009.12:136198816:AAA:AA
Gene:: LHX3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136198819del, NC_000009.11:g.139090665del, NG_008097.1:g.11293del, NM_178138.6:c.610del, NM_178138.5:c.610del, NM_178138.4:c.610del, NM_014564.5:c.625del, NM_014564.4:c.625del, NM_014564.3:c.625del, NM_001363746.1:c.577del, XM_017015168.1:c.538del, NP_835258.1:p.Trp204fs, NP_055379.1:p.Trp209fs, NP_001350675.1:p.Trp193fs, XP_016870657.1:p.Trp180fs

Select item 14892128553.

rs1489212855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:136199681 (GRCh38)
9:139091527 (GRCh37)
Canonical SPDI:: NC_000009.12:136199680:G:T
Gene:: LHX3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136199681G>T, NC_000009.11:g.139091527G>T, NG_008097.1:g.10429C>A, NM_178138.6:c.451C>A, NM_178138.5:c.451C>A, NM_178138.4:c.451C>A, NM_014564.5:c.466C>A, NM_014564.4:c.466C>A, NM_014564.3:c.466C>A, NM_001363746.1:c.418C>A, XM_017015168.1:c.379C>A

Select item 14871831264.

rs1487183126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136199742 (GRCh38)
9:139091588 (GRCh37)
Canonical SPDI:: NC_000009.12:136199741:C:T
Gene:: LHX3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.136199742C>T, NC_000009.11:g.139091588C>T, NG_008097.1:g.10368G>A, NM_178138.6:c.390G>A, NM_178138.5:c.390G>A, NM_178138.4:c.390G>A, NM_014564.5:c.405G>A, NM_014564.4:c.405G>A, NM_014564.3:c.405G>A, NM_001363746.1:c.357G>A, XM_017015168.1:c.318G>A

Select item 14850186675.

rs1485018667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136197587 (GRCh38)
9:139089433 (GRCh37)
Canonical SPDI:: NC_000009.12:136197586:G:A
Gene:: LHX3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.136197587G>A, NC_000009.11:g.139089433G>A, NG_008097.1:g.12523C>T, NM_178138.6:c.932C>T, NM_178138.5:c.932C>T, NM_178138.4:c.932C>T, NM_014564.5:c.947C>T, NM_014564.4:c.947C>T, NM_014564.3:c.947C>T, NM_001363746.1:c.899C>T, XM_017015168.1:c.860C>T, NP_835258.1:p.Pro311Leu, NP_055379.1:p.Pro316Leu, NP_001350675.1:p.Pro300Leu, XP_016870657.1:p.Pro287Leu

Select item 14845401106.

rs1484540110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:136198707 (GRCh38)
9:139090553 (GRCh37)
Canonical SPDI:: NC_000009.12:136198706:C:G,NC_000009.12:136198706:C:T
Gene:: LHX3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.136198707C>G, NC_000009.12:g.136198707C>T, NC_000009.11:g.139090553C>G, NC_000009.11:g.139090553C>T, NG_008097.1:g.11403G>C, NG_008097.1:g.11403G>A, NM_178138.6:c.720G>C, NM_178138.6:c.720G>A, NM_178138.5:c.720G>C, NM_178138.5:c.720G>A, NM_178138.4:c.720G>C, NM_178138.4:c.720G>A, NM_014564.5:c.735G>C, NM_014564.5:c.735G>A, NM_014564.4:c.735G>C, NM_014564.4:c.735G>A, NM_014564.3:c.735G>C, NM_014564.3:c.735G>A, NM_001363746.1:c.687G>C, NM_001363746.1:c.687G>A, XM_017015168.1:c.648G>C, XM_017015168.1:c.648G>A

Select item 14816631607.

rs1481663160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136204962 (GRCh38)
9:139096808 (GRCh37)
Canonical SPDI:: NC_000009.12:136204961:G:A
Gene:: LHX3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.136204962G>A, NC_000009.11:g.139096808G>A, NG_008097.1:g.5148C>T, NM_178138.6:c.51C>T, NM_178138.5:c.51C>T, NM_178138.4:c.51C>T