ClinVar

NM_004056.6(CA8):c.41C>G (p.Pro14Arg)

Gene:

CA8:carbonic anhydrase 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.1

Genomic location:

• Chr8: 60281107 (on Assembly GRCh38)
• Chr8: 61193666 (on Assembly GRCh37)

Preferred name:

NM_004056.6(CA8):c.41C>G (p.Pro14Arg)

HGVS:

• NC_000008.11:g.60281107G>C
• NG_023193.2:g.5289C>G
• NM_001321837.2:c.41C>G
• NM_001321838.2:c.41C>G
• NM_001321839.2:c.41C>G
• NM_004056.4:c.41C>G
• NM_004056.6:c.41C>GMANE SELECT
• NP_001308766.1:p.Pro14Arg
• NP_001308767.1:p.Pro14Arg
• NP_001308768.1:p.Pro14Arg
• NP_004047.3:p.Pro14Arg
• NC_000008.10:g.61193666G>C
• NR_135821.2:n.294C>G

This HGVS expression did not pass validation

Protein change:

P14R

Links:

dbSNP: rs746415479

NCBI 1000 Genomes Browser:

rs746415479

Molecular consequence:

• NM_001321837.2:c.41C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321838.2:c.41C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321839.2:c.41C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_004056.6:c.41C>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_135821.2:n.294C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1