ClinVar

NM_001085377.2(MCC):c.2007G>A (p.Ala669=)

Gene:

MCC:MCC regulator of WNT signaling pathway [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 113068102 (on Assembly GRCh38)
• Chr5: 112403799 (on Assembly GRCh37)

Preferred name:

NM_001085377.2(MCC):c.2007G>A (p.Ala669=)

HGVS:

• NC_000005.10:g.113068102C>T
• NG_012265.1:g.425729G>A
• NM_001085377.2:c.2007G>AMANE SELECT
• NM_002387.3:c.1437G>A
• NP_001078846.2:p.Ala669=
• NP_002378.2:p.Ala479=
• NC_000005.9:g.112403799C>T
• NM_001085377.1:c.2007G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs140691479

NCBI 1000 Genomes Browser:

rs140691479

Molecular consequence:

• NM_001085377.2:c.2007G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002387.3:c.1437G>A - synonymous variant - [Sequence Ontology: SO:0001819]