ClinVar

NM_001063.4(TF):c.9C>T (p.Leu3=)

Gene:

TF:transferrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

• Chr3: 133746449 (on Assembly GRCh38)
• Chr3: 133465293 (on Assembly GRCh37)

Preferred name:

NM_001063.4(TF):c.9C>T (p.Leu3=)

HGVS:

• NC_000003.12:g.133746449C>T
• NG_013080.2:g.89452C>T
• NM_001063.4:c.9C>TMANE SELECT
• NM_001354703.2:c.-89-1963C>T
• NM_001354704.2:c.-200C>T
• NP_001054.2:p.Leu3=
• NC_000003.11:g.133465293C>T
• NC_000003.11:g.133465293C>T
• NM_001063.3:c.9C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs746387440

NCBI 1000 Genomes Browser:

rs746387440

Molecular consequence:

• NM_001354704.2:c.-200C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354703.2:c.-89-1963C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001063.4:c.9C>T - synonymous variant - [Sequence Ontology: SO:0001819]