ClinVar

NM_001384910.1(GUCA1A):c.*76C>A

Genes:

GUCA1B:guanylate cyclase activator 1B [Gene - OMIM - HGNC]
GUCA1ANB-GUCA1A:GUCA1ANB-GUCA1A readthrough [Gene - HGNC]
GUCA1A:guanylate cyclase activator 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 42179479 (on Assembly GRCh38)
• Chr6: 42147217 (on Assembly GRCh37)

Preferred name:

NM_001384910.1(GUCA1A):c.*76C>A

HGVS:

• NC_000006.12:g.42179479C>A
• NG_009938.1:g.29074C>A
• NM_000409.5:c.*76C>A
• NM_001319061.2:c.*76C>A
• NM_001319062.2:c.*76C>A
• NM_001384910.1:c.*76C>AMANE SELECT
• NC_000006.11:g.42147217C>A
• NM_000409.3:c.*76C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs76792280

NCBI 1000 Genomes Browser:

rs76792280

Molecular consequence:

• NM_000409.5:c.*76C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001319061.2:c.*76C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001319062.2:c.*76C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001384910.1:c.*76C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]