ClinVar

NM_001063.4(TF):c.153C>T (p.Ser51=)

Gene:

TF:transferrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

• Chr3: 133748521 (on Assembly GRCh38)
• Chr3: 133467365 (on Assembly GRCh37)

Preferred name:

NM_001063.4(TF):c.153C>T (p.Ser51=)

HGVS:

• NC_000003.12:g.133748521C>T
• NG_013080.2:g.91524C>T
• NG_013080.3:g.91525C>T
• NM_001063.4:c.153C>TMANE SELECT
• NM_001354703.2:c.21C>T
• NM_001354704.2:c.-166+2038C>T
• NP_001054.2:p.Ser51=
• NP_001341632.2:p.Ser7=
• NC_000003.11:g.133467365C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001354704.2:c.-166+2038C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001063.4:c.153C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354703.2:c.21C>T - synonymous variant - [Sequence Ontology: SO:0001819]