ClinVar

NM_018406.7(MUC4):c.12705A>C (p.Thr4235=)

Genes:

LOC126806930:BRD4-independent group 4 enhancer GRCh37_chr3:195505212-195506411 [Gene]
MUC4:mucin 4, cell surface associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q29

Genomic location:

• Chr3: 195778875 (on Assembly GRCh38)
• Chr3: 195505746 (on Assembly GRCh37)

Preferred name:

NM_018406.7(MUC4):c.12705A>C (p.Thr4235=)

HGVS:

• NC_000003.12:g.195778875T>G
• NG_053117.1:g.38099A>C
• NG_083251.1:g.635T>G
• NM_001322468.1:c.18723A>C
• NM_004532.6:c.83-420A>C
• NM_018406.7:c.12705A>CMANE SELECT
• NM_138297.5:c.83-4570A>C
• NP_001309397.1:p.Thr6241=
• NP_060876.5:p.Thr4235=
• NC_000003.11:g.195505746T>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_004532.6:c.83-420A>C - genic upstream transcript variant - [Sequence Ontology: SO:0002153]
• NM_138297.5:c.83-4570A>C - genic upstream transcript variant - [Sequence Ontology: SO:0002153]
• NM_001322468.1:c.18723A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018406.7:c.12705A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1