ClinVar

NM_001063.4(TF):c.1191C>T (p.Ile397=)

Gene:

TF:transferrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

• Chr3: 133759317 (on Assembly GRCh38)
• Chr3: 133478161 (on Assembly GRCh37)

Preferred name:

NM_001063.4(TF):c.1191C>T (p.Ile397=)

HGVS:

• NC_000003.12:g.133759317C>T
• NG_013080.2:g.102320C>T
• NG_013080.3:g.102321C>T
• NM_001063.4:c.1191C>TMANE SELECT
• NM_001354703.2:c.1059C>T
• NM_001354704.2:c.810C>T
• NP_001054.2:p.Ile397=
• NP_001341632.2:p.Ile353=
• NP_001341633.2:p.Ile270=
• NC_000003.11:g.133478161C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001063.4:c.1191C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354703.2:c.1059C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354704.2:c.810C>T - synonymous variant - [Sequence Ontology: SO:0001819]