ClinVar

NM_001190737.2(NFIB):c.1000C>T (p.Pro334Ser)

Gene:

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

Variant type:

single nucleotide variant

Preferred name:

NM_001190737.2(NFIB):c.1000C>T (p.Pro334Ser)

HGVS:

• NC_000009.12:g.14125692G>A
• NM_001190737.2:c.1000C>TMANE SELECT
• NM_001190738.2:c.1078C>T
• NM_001282787.2:c.244C>T
• NM_001369458.1:c.1066C>T
• NM_001369459.1:c.1066C>T
• NM_001369460.1:c.988C>T
• NM_001369461.1:c.1000C>T
• NM_001369462.1:c.1066C>T
• NM_001369463.1:c.988C>T
• NM_001369464.1:c.1000C>T
• NM_001369465.1:c.973C>T
• NM_001369466.1:c.988C>T
• NM_001369467.1:c.973C>T
• NM_001369468.1:c.1066C>T
• NM_001369469.1:c.856C>T
• NM_001369470.1:c.763C>T
• NM_001369471.1:c.1000C>T
• NM_001369472.1:c.988C>T
• NM_001369473.1:c.988C>T
• NM_001369474.1:c.985C>T
• NM_001369475.1:c.775C>T
• NM_001369476.1:c.973C>T
• NM_001369477.1:c.946C>T
• NM_001369478.1:c.763C>T
• NM_001369479.1:c.463C>T
• NM_001369480.1:c.463C>T
• NM_001429577.1:c.1000C>T
• NM_005596.3:c.1000C>T
• NP_001177666.1:p.Pro334Ser
• NP_001177667.1:p.Pro360Ser
• NP_001269716.1:p.Pro82Ser
• NP_001356387.1:p.Pro356Ser
• NP_001356388.1:p.Pro356Ser
• NP_001356389.1:p.Pro330Ser
• NP_001356390.1:p.Pro334Ser
• NP_001356391.1:p.Pro356Ser
• NP_001356392.1:p.Pro330Ser
• NP_001356393.1:p.Pro334Ser
• NP_001356394.1:p.Pro325Ser
• NP_001356395.1:p.Pro330Ser
• NP_001356396.1:p.Pro325Ser
• NP_001356397.1:p.Pro356Ser
• NP_001356398.1:p.Pro286Ser
• NP_001356399.1:p.Pro255Ser
• NP_001356400.1:p.Pro334Ser
• NP_001356401.1:p.Pro330Ser
• NP_001356402.1:p.Pro330Ser
• NP_001356403.1:p.Pro329Ser
• NP_001356404.1:p.Pro259Ser
• NP_001356405.1:p.Pro325Ser
• NP_001356406.1:p.Pro316Ser
• NP_001356407.1:p.Pro255Ser
• NP_001356408.1:p.Pro155Ser
• NP_001356409.1:p.Pro155Ser
• NP_001416506.1:p.Pro334Ser
• NP_005587.2:p.Pro334Ser
• NC_000009.11:g.14125691G>A
• NM_001190737.1:c.1000C>T
• NR_161382.1:n.534C>T
• NR_161383.1:n.885C>T
• NR_161384.1:n.532C>T
• NR_161385.1:n.584C>T

This HGVS expression did not pass validation

Protein change:

P155S

Molecular consequence:

• NM_001190737.2:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190738.2:c.1078C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282787.2:c.244C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369458.1:c.1066C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369459.1:c.1066C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369460.1:c.988C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369461.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369462.1:c.1066C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369463.1:c.988C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369464.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369465.1:c.973C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369466.1:c.988C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369467.1:c.973C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369468.1:c.1066C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369469.1:c.856C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369470.1:c.763C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369471.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369472.1:c.988C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369473.1:c.988C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369474.1:c.985C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369475.1:c.775C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369476.1:c.973C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369477.1:c.946C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369478.1:c.763C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369479.1:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369480.1:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001429577.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005596.3:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_161382.1:n.534C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_161383.1:n.885C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_161384.1:n.532C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_161385.1:n.584C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]