ClinVar

NM_001127511.3(APC):c.-142G>A

Gene:

APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112707576 (on Assembly GRCh38)
• Chr5: 112043273 (on Assembly GRCh37)

Preferred name:

NM_001127511.3(APC):c.-142G>A

HGVS:

• NC_000005.10:g.112707576G>A
• NG_008481.4:g.20056G>A
• NM_000038.6:c.-30368G>AMANE SELECT
• NM_001127511.3:c.-142G>A
• NM_001354895.2:c.-325G>A
• NM_001354897.2:c.-142G>A
• NM_001354902.2:c.-142G>A
• NM_001407446.1:c.-142G>A
• NM_001407447.1:c.-325G>A
• NM_001407448.1:c.-92G>A
• NM_001407450.1:c.-92G>A
• NM_001407452.1:c.-325G>A
• NM_001407453.1:c.-116G>A
• NM_001407456.1:c.-325G>A
• NM_001407457.1:c.-92G>A
• NM_001407458.1:c.-92G>A
• NM_001407460.1:c.-325G>A
• NM_001407469.1:c.-325G>A
• NM_001407470.1:c.-1360G>A
• NM_001407472.1:c.-1360G>A
• LRG_130t3:c.-325G>A
• LRG_130:g.20056G>A
• NC_000005.9:g.112043273G>A
• NM_001127511.1:c.-325G>A
• NR_176365.1:n.79G>A
• NR_176366.1:n.79G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs951500465

NCBI 1000 Genomes Browser:

rs951500465

Molecular consequence:

• NM_001127511.3:c.-142G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354895.2:c.-325G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354897.2:c.-142G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354902.2:c.-142G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000038.6:c.-30368G>A - genic upstream transcript variant - [Sequence Ontology: SO:0002153]