ClinVar

NM_001166345.3(MDFIC):c.-198G>T

Genes:

LOC129999150:ATAC-STARR-seq lymphoblastoid silent region 18549 [Gene]
MDFIC:MyoD family inhibitor domain containing [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.1

Genomic location:

• Chr7: 114922546 (on Assembly GRCh38)
• Chr7: 114562601 (on Assembly GRCh37)

Preferred name:

NM_001166345.3(MDFIC):c.-198G>T

HGVS:

• NC_000007.14:g.114922546G>T
• NG_029463.1:g.5393G>T
• NG_029463.2:g.5454G>T
• NG_178596.1:g.143G>T
• NG_178597.1:g.83G>T
• NM_001166345.3:c.-198G>TMANE SELECT
• NM_001166346.1:c.130G>T
• NM_199072.5:c.130G>T
• NP_001159818.3:p.Gly44Cys
• NP_951038.1:p.Gly44Cys
• NC_000007.13:g.114562601G>T
• NM_199072.4:c.130G>T

This HGVS expression did not pass validation

Protein change:

G44C

Molecular consequence:

• NM_001166345.3:c.-198G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001166346.1:c.130G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199072.5:c.130G>T - missense variant - [Sequence Ontology: SO:0001583]