ClinVar

NM_001190737.2(NFIB):c.862G>T (p.Asp288Tyr)

Gene:

NFIB:nuclear factor I B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p23

Genomic location:

• Chr9: 14146752 (on Assembly GRCh38)
• Chr9: 14146751 (on Assembly GRCh37)

Preferred name:

NM_001190737.2(NFIB):c.862G>T (p.Asp288Tyr)

HGVS:

• NC_000009.12:g.14146752C>A
• NM_001190737.2:c.862G>TMANE SELECT
• NM_001190738.2:c.940G>T
• NM_001282787.2:c.106G>T
• NM_001369458.1:c.928G>T
• NM_001369459.1:c.928G>T
• NM_001369460.1:c.850G>T
• NM_001369461.1:c.862G>T
• NM_001369462.1:c.928G>T
• NM_001369463.1:c.850G>T
• NM_001369464.1:c.862G>T
• NM_001369465.1:c.835G>T
• NM_001369466.1:c.850G>T
• NM_001369467.1:c.835G>T
• NM_001369468.1:c.928G>T
• NM_001369469.1:c.718G>T
• NM_001369470.1:c.625G>T
• NM_001369471.1:c.862G>T
• NM_001369472.1:c.850G>T
• NM_001369473.1:c.850G>T
• NM_001369474.1:c.847G>T
• NM_001369475.1:c.637G>T
• NM_001369476.1:c.835G>T
• NM_001369477.1:c.808G>T
• NM_001369478.1:c.625G>T
• NM_001369479.1:c.325G>T
• NM_001369480.1:c.325G>T
• NM_001429577.1:c.862G>T
• NM_005596.3:c.862G>T
• NP_001177666.1:p.Asp288Tyr
• NP_001177667.1:p.Asp314Tyr
• NP_001269716.1:p.Asp36Tyr
• NP_001356387.1:p.Asp310Tyr
• NP_001356388.1:p.Asp310Tyr
• NP_001356389.1:p.Asp284Tyr
• NP_001356390.1:p.Asp288Tyr
• NP_001356391.1:p.Asp310Tyr
• NP_001356392.1:p.Asp284Tyr
• NP_001356393.1:p.Asp288Tyr
• NP_001356394.1:p.Asp279Tyr
• NP_001356395.1:p.Asp284Tyr
• NP_001356396.1:p.Asp279Tyr
• NP_001356397.1:p.Asp310Tyr
• NP_001356398.1:p.Asp240Tyr
• NP_001356399.1:p.Asp209Tyr
• NP_001356400.1:p.Asp288Tyr
• NP_001356401.1:p.Asp284Tyr
• NP_001356402.1:p.Asp284Tyr
• NP_001356403.1:p.Asp283Tyr
• NP_001356404.1:p.Asp213Tyr
• NP_001356405.1:p.Asp279Tyr
• NP_001356406.1:p.Asp270Tyr
• NP_001356407.1:p.Asp209Tyr
• NP_001356408.1:p.Asp109Tyr
• NP_001356409.1:p.Asp109Tyr
• NP_001416506.1:p.Asp288Tyr
• NP_005587.2:p.Asp288Tyr
• NC_000009.11:g.14146751C>A
• NM_001190737.1:c.862G>T
• NR_161382.1:n.396G>T
• NR_161383.1:n.747G>T
• NR_161384.1:n.394G>T
• NR_161385.1:n.446G>T

This HGVS expression did not pass validation

Protein change:

D109Y

Molecular consequence:

• NM_001190737.2:c.862G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190738.2:c.940G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282787.2:c.106G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369458.1:c.928G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369459.1:c.928G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369460.1:c.850G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369461.1:c.862G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369462.1:c.928G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369463.1:c.850G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369464.1:c.862G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369465.1:c.835G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369466.1:c.850G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369467.1:c.835G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369468.1:c.928G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369469.1:c.718G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369470.1:c.625G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369471.1:c.862G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369472.1:c.850G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369473.1:c.850G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369474.1:c.847G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369475.1:c.637G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369476.1:c.835G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369477.1:c.808G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369478.1:c.625G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369479.1:c.325G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369480.1:c.325G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429577.1:c.862G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005596.3:c.862G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_161382.1:n.396G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_161383.1:n.747G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_161384.1:n.394G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_161385.1:n.446G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]