ClinVar

NM_003200.5(TCF3):c.128C>T (p.Ala43Val)

Gene:

TCF3:transcription factor 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 1646372 (on Assembly GRCh38)
• Chr19: 1646371 (on Assembly GRCh37)

Preferred name:

NM_003200.5(TCF3):c.128C>T (p.Ala43Val)

HGVS:

• NC_000019.10:g.1646372G>A
• NG_029953.2:g.11175C>T
• NM_001136139.4:c.128C>T
• NM_001351778.2:c.128C>T
• NM_001351779.2:c.128C>T
• NM_003200.5:c.128C>TMANE SELECT
• NP_001129611.1:p.Ala43Val
• NP_001338707.1:p.Ala43Val
• NP_001338708.1:p.Ala43Val
• NP_003191.1:p.Ala43Val
• LRG_1325t1:c.128C>T
• LRG_1325t2:c.128C>T
• LRG_1325:g.11175C>T
• LRG_1325p1:p.Ala43Val
• LRG_1325p2:p.Ala43Val
• NC_000019.9:g.1646371G>A
• NG_029953.1:g.10958C>T
• NM_001136139.2:c.128C>T

This HGVS expression did not pass validation

Protein change:

A43V

Links:

dbSNP: rs376245305

NCBI 1000 Genomes Browser:

rs376245305

Molecular consequence:

• NM_001136139.4:c.128C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351778.2:c.128C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351779.2:c.128C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003200.5:c.128C>T - missense variant - [Sequence Ontology: SO:0001583]