ClinVar

NM_014797.3(ZBTB24):c.2041C>T (p.Pro681Ser)

Genes:

MICAL1:microtubule associated monooxygenase, calponin and LIM domain containing 1 [Gene - OMIM - HGNC]
ZBTB24:zinc finger and BTB domain containing 24 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

• Chr6: 109465904 (on Assembly GRCh38)
• Chr6: 109787107 (on Assembly GRCh37)

Preferred name:

NM_014797.3(ZBTB24):c.2041C>T (p.Pro681Ser)

HGVS:

• NC_000006.12:g.109465904G>A
• NG_029388.1:g.22334C>T
• NG_042833.1:g.5065C>T
• NM_001286613.2:c.-227C>T
• NM_014797.3:c.2041C>TMANE SELECT
• NP_055612.2:p.Pro681Ser
• NP_055612.2:p.Pro681Ser
• LRG_326t1:c.2041C>T
• LRG_326:g.22334C>T
• LRG_326p1:p.Pro681Ser
• NC_000006.11:g.109787107G>A
• NM_014797.2:c.2041C>T

This HGVS expression did not pass validation

Protein change:

P681S

Molecular consequence:

• NM_001286613.2:c.-227C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_014797.3:c.2041C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2