ClinVar

NM_001171.6(ABCC6):c.4245C>T (p.Ala1415=)

Gene:

ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.11

Genomic location:

• Chr16: 16150736 (on Assembly GRCh38)
• Chr16: 16244593 (on Assembly GRCh37)

Preferred name:

NM_001171.6(ABCC6):c.4245C>T (p.Ala1415=)

HGVS:

• NC_000016.10:g.16150736G>A
• NG_007558.3:g.77882C>T
• NM_001171.6:c.4245C>TMANE SELECT
• NM_001351800.1:c.3903C>T
• NP_001162.5:p.Ala1415=
• NP_001338729.1:p.Ala1301=
• LRG_1115t1:c.4245C>T
• LRG_1115:g.77882C>T
• LRG_1115p1:p.Ala1415=
• NC_000016.9:g.16244593G>A
• NR_147784.1:n.3907C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_147784.1:n.3907C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001171.6:c.4245C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351800.1:c.3903C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1