ClinVar

NM_001215.4(CA6):c.329T>A (p.Met110Lys)

Gene:

CA6:carbonic anhydrase 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.23

Genomic location:

• Chr1: 8957206 (on Assembly GRCh38)
• Chr1: 9017265 (on Assembly GRCh37)

Preferred name:

NM_001215.4(CA6):c.329T>A (p.Met110Lys)

HGVS:

• NC_000001.11:g.8957206T>A
• NG_033975.1:g.16373T>A
• NM_001215.4:c.329T>AMANE SELECT
• NM_001270500.2:c.329T>A
• NM_001270501.2:c.149T>A
• NM_001270502.2:c.25-1704T>A
• NP_001206.2:p.Met110Lys
• NP_001257429.1:p.Met110Lys
• NP_001257430.1:p.Met50Lys
• NC_000001.10:g.9017265T>A
• NM_001215.2:c.329T>A

This HGVS expression did not pass validation

Protein change:

M110K

Molecular consequence:

• NM_001270502.2:c.25-1704T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001215.4:c.329T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270500.2:c.329T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270501.2:c.149T>A - missense variant - [Sequence Ontology: SO:0001583]