ClinVar

NM_001243156.2(TAF1C):c.2287C>T (p.Pro763Ser)

Gene:

TAF1C:TATA-box binding protein associated factor, RNA polymerase I subunit C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.1

Genomic location:

• Chr16: 84179186 (on Assembly GRCh38)
• Chr16: 84212792 (on Assembly GRCh37)

Preferred name:

NM_001243156.2(TAF1C):c.2287C>T (p.Pro763Ser)

HGVS:

• NC_000016.10:g.84179186G>A
• NG_021174.1:g.38928G>A
• NG_021174.2:g.38880G>A
• NM_001243156.2:c.2287C>TMANE SELECT
• NM_001243157.2:c.1369C>T
• NM_001243158.2:c.1369C>T
• NM_001243159.2:c.1138C>T
• NM_001243160.2:c.934C>T
• NM_005679.4:c.2365C>T
• NM_139353.3:c.2083C>T
• NP_001230085.2:p.Pro763Ser
• NP_001230086.1:p.Pro457Ser
• NP_001230087.1:p.Pro457Ser
• NP_001230088.1:p.Pro380Ser
• NP_001230089.1:p.Pro312Ser
• NP_005670.4:p.Pro789Ser
• NP_647610.3:p.Pro695Ser
• NC_000016.9:g.84212792G>A
• NM_005679.3:c.2365C>T

This HGVS expression did not pass validation

Protein change:

P312S

Molecular consequence:

• NM_001243156.2:c.2287C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243157.2:c.1369C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243158.2:c.1369C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243159.2:c.1138C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243160.2:c.934C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005679.4:c.2365C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_139353.3:c.2083C>T - missense variant - [Sequence Ontology: SO:0001583]